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Cav1.4

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Immunopharmacology Ligand target has curated data in GtoImmuPdb

Target id: 531

Nomenclature: Cav1.4

Family: Voltage-gated calcium channels (CaV)

Contents:

Gene and Protein Information Click here for help
Species TM P Loops AA Chromosomal Location Gene Symbol Gene Name Reference
Human 24 4 1977 Xp11.23 CACNA1F calcium voltage-gated channel subunit alpha1 F 4,35,38
Mouse 24 4 1985 X 3.42 cM Cacna1f calcium channel, voltage-dependent, alpha 1F subunit 31,40
Rat 24 4 1981 Xq13 Cacna1f calcium voltage-gated channel subunit alpha1 F 27
Previous and Unofficial Names Click here for help
AIED | COD4 | CSNB2 | CSNB2A | CSNBX2 | JM8 | JMC8 | OA2 | Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2) | Sfc17 | nerg1 | nob2 | class F L-type calcium channel [4] | CORDX3 | calcium channel
Database Links Click here for help
Alphafold O60840 (Hs), Q9JIS7 (Mm)
ChEMBL Target CHEMBL2363032 (Hs), CHEMBL2176791 (Mm)
DrugBank Target O60840 (Hs)
Ensembl Gene ENSG00000102001 (Hs), ENSMUSG00000031142 (Mm), ENSRNOG00000010348 (Rn)
Entrez Gene 778 (Hs), 54652 (Mm), 114493 (Rn)
Human Protein Atlas ENSG00000102001 (Hs)
KEGG Gene hsa:778 (Hs), mmu:54652 (Mm), rno:114493 (Rn)
OMIM 2344 (Hs), 300110 (Hs)
Orphanet ORPHA119148 (Hs)
Pharos O60840 (Hs)
RefSeq Nucleotide NM_005183 (Hs), NM_019582 (Mm), NM_053701 (Rn)
RefSeq Protein NP_005174 (Hs), NP_062528 (Mm), NP_446153 (Rn)
UniProtKB O60840 (Hs), Q9JIS7 (Mm)
Wikipedia CACNA1F (Hs)
Associated Proteins Click here for help
Heteromeric Pore-forming Subunits
Name References
Not determined
Auxiliary Subunits
Name References
α2δ 21,33
β (likely β2) 2
Other Associated Proteins
Name References
Calcium binding protein 4 14,34
Calmodulin 13,35
Functional Characteristics Click here for help
L-type calcium current: More negative activation voltage range than Cav1.2, no/weak calcium-dependent inactivation
Ion Selectivity and Conductance Click here for help
Species:  Human
Rank order:  Cs+ [21.0 pS] > Ba2+ [4.0 pS]
References:  11
Voltage Dependence Click here for help
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -15.1 – -1.1 (median: -12.0) 0.65 – 3.6 3,14 HEK 293 cells. Mouse
Inactivation  -15.4 - 3
Comments  Data are for ICa2+, except for τ which was determined for IBa2+. V0.5 for activation is more positive with Ca2+ as a charge carrier than with Ba2+.
  V0.5 (mV)  τ (msec)  Reference  Cell type  Species 
Activation  -11.6 – 0.6 0.43 – 6.6 22,26,35 tsA-201 cells. Human
Inactivation  -9.3 9.8 26
Comments  Data are for ICa2+, except for inactivation data (IBa2+). V0.5 for activation is more positive with Ca2+ as a charge carrier than with Ba2+. Unlike for other Ca2+ channels, Ca2+-dependent inactivation (CDI) is absent due to inhibition of CDI by a C-terminal modulatory domain [35,40]. This inhibitory effect can be overcome by excess calmodulin resulting in CDI [24]. ICa2+ inactivates by about 80% during 10-s depolarisations to Vmax [22,35,40]. Activation is biexponential with β2 subunits (τ for fast and slow phase are given).

Download all structure-activity data for this target as a CSV file go icon to follow link

Activators
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference
BAYK 8644 Small molecule or natural product Click here for species-specific activity table Hs - - - 5x10-6 - 1x10-5 -100.0 – -80.0 18,22,26
⤷ Conc range: 5x10-6 - 1x10-5 M [18,22,26]
Holding voltage: -100.0 – -80.0 mV
BAYK 8644 Small molecule or natural product Click here for species-specific activity table Mm - - - 1x10-6 -80.0 3
⤷ Conc range: 1x10-6 M [3]
Holding voltage: -80.0 mV
(-)-(S)-BayK8644 Small molecule or natural product Click here for species-specific activity table Ligand has a PDB structure Hs - ~7.8 pEC50 - -
⤷ pEC50 ~7.8 (EC50 ~1.73x10-8 M)
View species-specific activator tables
Activator Comments
BAYK 8644 shifts the I-V relationship 5-10mV in the hyperpolarised direction.
Gating inhibitors Click here for help
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference
isradipine Small molecule or natural product Approved drug Click here for species-specific activity table Hs Antagonist - - 1x10-6 -90.0 – -50.0 22
⤷ Conc range: 1x10-6 M [22]
Holding voltage: -90.0 – -50.0 mV
isradipine Small molecule or natural product Approved drug Click here for species-specific activity table Mm Antagonist 6.7 pIC50 - -80.0 3
⤷ pIC50 6.7 [3]
Holding voltage: -80.0 mV
nitrendipine Small molecule or natural product Approved drug Click here for species-specific activity table Hs Antagonist ~6.0 pIC50 - -70.0
⤷ pIC50 ~6.0 (IC50 ~1x10-6 M)
Holding voltage: -70.0 mV
nifedipine Small molecule or natural product Approved drug Click here for species-specific activity table Ligand has a PDB structure Hs Antagonist 6.0 pIC50 - -100.0 26
⤷ pIC50 6.0 [26]
Holding voltage: -100.0 mV
nimodipine Small molecule or natural product Approved drug Click here for species-specific activity table Hs Antagonist ~6.0 pIC50 - -70.0
⤷ pIC50 ~6.0 (IC50 ~1x10-6 M)
Holding voltage: -70.0 mV
L-(cis)-diltiazem Small molecule or natural product Click here for species-specific activity table Ligand has a PDB structure Mm - 4.1 pIC50 - -80.0 3
⤷ pIC50 4.1 [3]
Holding voltage: -80.0 mV
View species-specific gating inhibitor tables
Gating Inhibitor Comments
The effect of (+/-)-isradipine is voltage-dependent with 100nM producing 20-42% current block at a holding potential of -80 - -90mV and 80-90% block at -50mV [3,22]. Nifedipine also shows a mild increase in block at more positive holding voltages [26].

(+)-[3H]-isradipine does not show any high affinity binding with Cav1.4 [36].
Channel Blockers
Key to terms and symbols View all chemical structures Click column headers to sort
Ligand Sp. Action Value Parameter Concentration range (M) Holding voltage (mV) Reference
verapamil Small molecule or natural product Approved drug Click here for species-specific activity table Mm - - - 1x10-4 -80.0 3
⤷ Conc range: 1x10-4 M [3]
Holding voltage: -80.0 mV
diltiazem Small molecule or natural product Approved drug Click here for species-specific activity table Ligand has a PDB structure Mm - 4.0 pIC50 - -80.0 3
⤷ pIC50 4.0 [3]
Holding voltage: -80.0 mV
Channel Blocker Comments
Cav1.4 is less sensitive to dihydropyridine antagonists than other members of the family.
Immunopharmacology Comments
Cav1.4 and Cav1.3 are involved in CD8+ T cell survival and cytokine production [32,39].
Cell Type Associations
Immuno Cell Type:  T cells
References:  32
Immuno Process Associations
Immuno Process:  Immune regulation
Immuno Process:  Cellular signalling
Tissue Distribution Click here for help
Lymphoid tissues, plasma, mast cells
Species:  Human
Technique:  Immunohistochemistry
References:  26
T-lymphocytes
Species:  Human
Technique:  RT-PCR, immunoprecipitation
References:  23
Retina
Species:  Human
Technique:  RT-PCR
References:  4,26
Retina (outer plexiform layer, inner plexiform and nuclear layer)
Species:  Human
Technique:  Immunohistochemistry
References:  26
Retina
Species:  Human
Technique:  Northern Blot
References:  38
T-lymphocytes
Species:  Mouse
Technique:  Western blot
References:  32
Retina (inner and outer nuclear layer, ganglion cell layer).
Species:  Mouse
Technique:  In situ hybridisation
References:  38
Dorsal root ganglia
Species:  Mouse
Technique:  RT-PCR
References:  28
Functional Assays Click here for help
Electrophysiology (whole-cell voltage clamp)
Species:  Mouse
Tissue:  HEK-293 cells expressing Cav1.4.
Response measured:  L-type currents
References:  3,14,40
Electrophysiology (single channel recording).
Species:  Human
Tissue:  HEK-293 cells expressing Cav1.4
Response measured:  L-type currents
References:  11
Electrophysiology (whole-cell voltage clamp).
Species:  Human
Tissue:  HEK-293 cells expressing Cav1.4.
Response measured:  L-type currents.
References:  22,26,35
Electrophysiology (two electrode voltage clamp).
Species:  Human
Tissue:  Xenopus laevis oocytes expressing Cav1.4
Response measured:  L-type currents.
References:  18
Physiological Functions Click here for help
Retinal signaling; neurotransmitter release from photoreceptors
Species:  Mouse
Tissue:  Retina
References:  10
Critical regulator of T cell receptor signaling and naive T cell homeostasis
Species:  Mouse
Tissue:  T-lymphocytes
References:  32
Physiological Consequences of Altering Gene Expression Click here for help
Absence of post-receptoral ERG responses and the diminished photoreceptor calcium signals; abnormal dendritic sprouting of second-order neurons in the photoreceptor layer
Species:  Mouse
Tissue:  Retina
Technique:  Cacna1f-gene knockout
References:  25
An abnormal light- and dark-adapted electroretinogram and a disorganised outer plexiform layer can be seen in the nob2 mouse (partial loss-of-function mutation in Cacna1f).
Species:  Mouse
Tissue:  Retina
Technique:  Natural mutation (in-frame stop codon, partially rescued by alternative splicing)
References:  10,12
An abnormal light- and dark-adapted electroretinogram and a disorganised outer plexiform layer can be seen in the nob2 mouse (null mutation in Cacna1f ).
Species:  Mouse
Tissue:  Retina
Technique:  Natural mutation
References:  10,12
Impaired function and survival of naive CD4+ and CD8+ T cells; impaired store-operated calcium entry, T cell receptor-induced rises in cytosolic Ca2+, activation of Ras-extracellular signal-regulated kinase and NFAT pathways
Species:  Mouse
Tissue:  T-lymphocytes
Technique:  Cacna1f-gene knockout
References:  32
Mouse CSNB2 mouse model (I745T): abnormal ERGs, altered retinal morphology
Species:  Mouse
Tissue:  Retina
Technique:  Homologous recombination (I745T introduced)
References:  32
Phenotypes, Alleles and Disease Models Click here for help Mouse data from MGI

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Allele Composition & genetic background Accession Phenotype Id Phenotype Reference
Cacna1fnob2 Cacna1fnob2/Cacna1fnob2
AXB6/PgnJ		 MGI:1859639  MP:0004022 abnormal cone electrophysiology PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Y
AXB6/PgnJ		 MGI:1859639  MP:0004022 abnormal cone electrophysiology PMID: 16597347 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Y
B6.129-Cacna1f		 MGI:1859639  MP:0005551 abnormal eye electrophysiology PMID: 16155113 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
B6.129-Cacna1f		 MGI:1859639  MP:0005551 abnormal eye electrophysiology PMID: 16155113 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Y
B6.129-Cacna1f		 MGI:1859639  MP:0006068 abnormal horizontal cell morphology PMID: 16155113 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
B6.129-Cacna1f		 MGI:1859639  MP:0006068 abnormal horizontal cell morphology PMID: 16155113 
Cacna1fnob2 Cacna1fnob2/Cacna1fnob2
AXB6/PgnJ		 MGI:1859639  MP:0006068 abnormal horizontal cell morphology PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Y
AXB6/PgnJ		 MGI:1859639  MP:0006068 abnormal horizontal cell morphology PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Cacna1fnob2
AXB6/PgnJ		 MGI:1859639  MP:0008056 abnormal retinal ganglion cell morphology PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Y
AXB6/PgnJ		 MGI:1859639  MP:0008056 abnormal retinal ganglion cell morphology PMID: 16597347 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Y
B6.129-Cacna1f		 MGI:1859639  MP:0006069 abnormal retinal neuronal layer morphology PMID: 16155113 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
B6.129-Cacna1f		 MGI:1859639  MP:0006069 abnormal retinal neuronal layer morphology PMID: 16155113 
Cacna1fnob2 Cacna1fnob2/Cacna1fnob2
AXB6/PgnJ		 MGI:1859639  MP:0003731 abnormal retinal outer nuclear layer morphology PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Y
AXB6/PgnJ		 MGI:1859639  MP:0003731 abnormal retinal outer nuclear layer morphology PMID: 16597347 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Y
B6.129-Cacna1f		 MGI:1859639  MP:0006074 abnormal retinal rod bipolar cell morphology PMID: 16155113 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
B6.129-Cacna1f		 MGI:1859639  MP:0006074 abnormal retinal rod bipolar cell morphology PMID: 16155113 
Cacna1fnob2 Cacna1fnob2/Cacna1fnob2
AXB6/PgnJ		 MGI:1859639  MP:0006074 abnormal retinal rod bipolar cell morphology PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Y
AXB6/PgnJ		 MGI:1859639  MP:0006074 abnormal retinal rod bipolar cell morphology PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Cacna1fnob2
AXB6/PgnJ		 MGI:1859639  MP:0004021 abnormal rod electrophysiology PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Y
AXB6/PgnJ		 MGI:1859639  MP:0004021 abnormal rod electrophysiology PMID: 16597347 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Y
B6.129-Cacna1f		 MGI:1859639  MP:0000968 abnormal sensory neuron innervation pattern PMID: 16155113 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
B6.129-Cacna1f		 MGI:1859639  MP:0000968 abnormal sensory neuron innervation pattern PMID: 16155113 
Cacna1fnob2 Cacna1fnob2/Cacna1fnob2
AXB6/PgnJ		 MGI:1859639  MP:0008520 disorganized retinal outer plexiform layer PMID: 16597347 
Cacna1fnob2 Cacna1fnob2/Y
AXB6/PgnJ		 MGI:1859639  MP:0008520 disorganized retinal outer plexiform layer PMID: 16597347 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Y
B6.129-Cacna1f		 MGI:1859639  MP:0008519 thin retinal outer plexiform layer PMID: 16155113 
Cacna1ftm1Ntbh Cacna1ftm1Ntbh/Cacna1ftm1Ntbh
B6.129-Cacna1f		 MGI:1859639  MP:0008519 thin retinal outer plexiform layer PMID: 16155113 
Clinically-Relevant Mutations and Pathophysiology Click here for help
Disease:  Aland Island eye disease; AIED
Disease Ontology: DOID:0050630
OMIM: 300600
Orphanet: ORPHA178333
Role:  Decreased signaling from photoreceptors to secondary neurons
Comments:  Affected males show a combination of fundus hypopigmentation, decreased visual acuity due to foveal hypoplasia, nystagmus, astigmatism, protan color vision defect, myopia, and defective dark adaptation. Except for progression of axial myopia, the disease can be considered to be a stationary condition.
References:  19
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Deletion Human p.1211-1247del In frame 425 bp deletion 19
Disease:  Cone-rod dystrophy, X-linked, 3; CORDX3
Synonyms: Cone rod dystrophy [Orphanet: ORPHA1872] [Disease Ontology: DOID:0050572]
Disease Ontology: DOID:0050572
OMIM: 300476
Orphanet: ORPHA1872
Role:  Progressive retinal disease; abnormal cone or cone-rod responses in ERG; mainly cone photoreceptor dysfunction. with diminished visual acuity, myopia, central scotomas, photophobia, impaired colour vision
Comments:  Affected individuals experience diminished visual acuity, myopia, central scotomas, photophobia, impaired colour vision
References:  20
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Splice site Human IVS28-1 GCGTC>TGG Intron 28 20
Disease:  Night blindness, congenital stationary, type 2A ; CSNB2A
Synonyms: Congenital stationary night blindness [Orphanet: ORPHA215] [Disease Ontology: DOID:0050534]
Disease Ontology: DOID:0050534
OMIM: 300071
Orphanet: ORPHA215
Role:  Decreased signaling from photoreceptors to secondary neurons
Drugs:  Not established
References:  4,10,38
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Deletion Human c.3691del12bp
Deletion Human 3720-3731 (mRNA) 38
Frameshift Human D406delC 5
Frameshift Human L1056insC 8
Frameshift Human I1159insC 4
Frameshift Human I1224delC 5
Frameshift Human 1280delC (mRNA) 7
Frameshift Human c.244insG 6
Frameshift Human c.281dup 6
Frameshift Human c.413del 6
Frameshift Human c.808delC 6
Frameshift Human c.904insG 30
Frameshift Human c.935delA 44
Frameshift Human c.1218delC 7
Frameshift Human c.151del5bp 6
Frameshift Human 213del5bp 43
Frameshift Human c.2246delT 6
Frameshift Human 3187delG 7
Frameshift Human 3195insC (mRNA) 38
Frameshift Human 3228insC (mRNA) 7
Frameshift Human 3735delC (mRNA) 7
Frameshift Human 5727delG 7
Frameshift Human c.2623_2624del 6
Frameshift Human c.3166-3167insC 7
Frameshift Human c.3471_3472delGC 44
Frameshift Human c.5337_5338insG 6
Frameshift: Deletion Human D341delC delC Exon 9. Nucleotide deletion results in a stop codon at 378. 4
Frameshift: Deletion Human c.3125delG Exon 27- induced a premature stop codon within the same exon. 7
Frameshift: Deletion Human c.3673delC Exon 30; results in a premature stop codon in exon 31 7
Frameshift: Deletion Human c.5665delG 7
Frameshift: Deletion/Insertion Human c.271del4/ins34 (ins net 30 bp) 4 bp deletion and 34 bp insertion in exon 4 (nucleotides 271-274). Two patients with this mutation displayed retinal and optic disc atrophy and a progressive decrease of visual function, characteristic of incomplete congenital stationary night blindness. 7,29-30
Frameshift: Insertion Human L991insC insC Exon 27 4
In-frame deletion Human F318del c.951–953delCTT 6-7
In-frame deletion Human L662del c.1984_1986delCTC Hemizygous mutation found with misense G1001R 41
In-frame deletion Human I1003del c.3006–3008delCAT exon 25 7
Missense Human R70W 6
Missense Human C74R 220T>C 6
Missense Human S229P 685T>C 17,43
Missense Human G261R 781G>A 43
Missense Human E278X 46
Missense Human W349X This mutation is associated with the clinical symptom night-blindness-associated transient tonic downgaze (NATTD) 37
Missense Human G359R c.1075G>A This mutation is associated with the clinical symptom night-blindness-associated transient tonic downgaze (NATTD) 37
Missense Human G369D 1106G>A 17,26,38
Missense Human R508Q 18,38
Missense Human R519Q 42
Missense Human G674D 7,26,30
Missense Human F742C 43
Missense Human F753C exon 17 37
Missense Human I756T 16
Missense Human L849P 43
Missense Human L860P 9
Missense Human G927A 6
Missense Human A928D 7,26
Missense Human D944Y 44
Missense Human G1001R c.3001G>A Hemizygous mutation found with in-frame deletion L662del 41
Missense Human G1007R 43
Missense Human G1018R 6
Missense Human R1049W 38
Missense Human R1060W 42
Missense Human L1068P 17,43
Missense Human L1079P exon 27 37
Missense Human E1145K 44
Missense Human S1265I 45
Missense Human L1364H 18,38
Missense Human L1375H 42
Missense Human L1486P 44
Missense Human C1488R 4462T>C 43
Missense Human P1489R 4466C>G This mutation is associated with the clinical symptom night-blindness-associated transient tonic downgaze (NATTD) 37,43
Missense Human p.1492A 44
Missense Human L1497P 4490T>C 43
Missense Human C1499R 37
Missense Human P1500R 37
Missense Human L1508P 37
Nonsense Human R50X 148C>T 7
Nonsense Human R82X 244C>T 7,43
Nonsense Human Q325X c.973C>T 1
Nonsense Human R379X 6
Nonsense Human R380X 4
Nonsense Human Q428X 1282C>T 43
Nonsense Human Q439X 15
Nonsense Human R614X 1840C>T 43
Nonsense Human R625X 1873C>T 7
Nonsense Human R691X 6,45
Nonsense Human R895X 2683C>T 6-7,45
Nonsense Human R958X 2172C>T 38
Nonsense Human R969X 46
Nonsense Human R978X 6,30
Nonsense Human S1114X 6
Nonsense Human R1234X C>T Exon 33 4
Nonsense Human R1288X 3862C>T 43
Nonsense Human R1299X 3895C>T 6-7
Nonsense Human R1302X
Nonsense Human Q1359X
Nonsense Human W1386X 4
Nonsense Human W1451X 4353G>A 6-7
Nonsense Human K1591X 4771A>T 35,38
Nonsense Human K1602X 37
Nonsense Human R1816X 5446C>T 43
Nonsense Human R1827X 9
Splice site Human intron splice site (stop exon 7) 7
Splice site Human intron splice site (stop in exon 42) 7
Splice site Human 2420G>C
Splice site Human 2706 (several mutations)
Splice site Human 2707delCA
Splice site Human 3975T>C or T>A
Splice site Human 4134G>C
Clinically-Relevant Mutations and Pathophysiology Comments
Mutations in intronic sequences of the Cav gene have also been associated with CSNB2 [7]. The electrophysiological consequences of several of these mutations have been investigated in heterologous expression systems [17-18,26,35,40]

References

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1. Audo I, Bujakowska KM, Léveillard T, Mohand-Saïd S, Lancelot ME, Germain A, Antonio A, Michiels C, Saraiva JP, Letexier M et al.. (2012) Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases. Orphanet J Rare Dis, 7: 8. [PMID:22277662]

2. Ball SL, Powers PA, Shin HS, Morgans CW, Peachey NS, Gregg RG. (2002) Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer. Invest Ophthalmol Vis Sci, 43 (5): 1595-603. [PMID:11980879]

3. Baumann L, Gerstner A, Zong X, Biel M, Wahl-Schott C. (2004) Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina. Invest Ophthalmol Vis Sci, 45 (2): 708-13. [PMID:14744918]

4. Bech-Hansen NT, Naylor MJ, Maybaum TA, Pearce WG, Koop B, Fishman GA, Mets M, Musarella MA, Boycott KM. (1998) Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness. Nat Genet, 19 (3): 264-7. [PMID:9662400]

5. Bech-Hansen T, Naylor MJ. (1999) Retinal calcium channel (alpha)1f-subunit gene. Patent number: CA2299611 A1. Priority date: 02/06/1998. Publication date: 09/12/1999.

6. Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. (2013) Genotype and phenotype of 101 dutch patients with congenital stationary night blindness. Ophthalmology, 120 (10): 2072-81. [PMID:23714322]

7. Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT. (2001) A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants. Hum Genet, 108 (2): 91-7. [PMID:11281458]

8. Boycott KM, Pearce WG, Bech-Hansen NT. (2000) Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F. Can J Ophthalmol, 35 (4): 204-13. [PMID:10900517]

9. Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I et al.. (2014) Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2. Biochim Biophys Acta, 1838 (8): 2053-65. [PMID:24796500]

10. Chang B, Heckenlively JR, Bayley PR, Brecha NC, Davisson MT, Hawes NL, Hirano AA, Hurd RE, Ikeda A, Johnson BA et al.. (2006) The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci, 23 (1): 11-24. [PMID:16597347]

11. Doering CJ, Hamid J, Simms B, McRory JE, Zamponi GW. (2005) Cav1.4 encodes a calcium channel with low open probability and unitary conductance. Biophys J, 89 (5): 3042-8. [PMID:16085774]

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