nicotinic acetylcholine receptor γ subunit

Target id: 475

Nomenclature: nicotinic acetylcholine receptor γ subunit

Family: Nicotinic acetylcholine receptors

Annotation status:  image of a green circle Annotated and expert reviewed. Please contact us if you can help with updates.  » Email us

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 4 517 2q33-q34 CHRNG cholinergic receptor, nicotinic, gamma (muscle) 6
Mouse 4 519 1 D Chrng cholinergic receptor, nicotinic, gamma polypeptide 2
Rat 4 519 9q35 Chrng cholinergic receptor, nicotinic, gamma (muscle) 8
Previous and Unofficial Names
ACHRG
AChR gamma subunit
Acrg
Achr-3
Database Links
ChEMBL Target
Ensembl Gene
Entrez Gene
GeneCards
GenitoUrinary Development Molecular Anatomy Project
HomoloGene
Human Protein Reference Database
InterPro
KEGG Gene
NeXtProt
OMIM
Orphanet
PharmGKB Gene
PhosphoSitePlus
Protein Ontology (PRO)
RefSeq Nucleotide
RefSeq Protein
TreeFam
UniGene Hs.
UniProtKB
Wikipedia
Natural/Endogenous Ligands
acetylcholine
Tissue Distribution Comments
The γ-subunit mRNA is expressed in embryonic skeletal muscle of vertebrates. In postnatal animals, expression of the γ-subunit is replaced by the ε-subunit.
Physiological Consequences of Altering Gene Expression
Homozygous mice, if born alive, survive for two days. Mice have abnormal neuromuscular synapses and lack spontaneous neuromuscular action potentials generated from minature end-plate potentials.
Species:  Mouse
Tissue:  in vivo
Technique:  Gene knockout
References:  7
Mice with an ε-subunit null mutation associated with the human AChR deficiency syndrome die between 10 and 14 weeks after birth. However, mice with the ε null mutation but which also consitutively express the human γ-subunit survive into adult life.
Species:  Mouse
Tissue:  in vivo
Technique:  Knock-in
References:  1
Clinically-Relevant Mutations and Pathophysiology
Disease:  Multiple pterygium syndrome, escobar variant; EVMPS
Description: A fetal akinesia deformation sequence (FADS) disorder
Synonyms: Autosomal recessive multiple pterygium syndrome [Orphanet: ORPHA2990]
Autosomal recessive non-lethal multiple pterygium
Escobar syndrome
OMIM: 265000
Orphanet: ORPHA2990
References:  3-4
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Frameshift: Deletion Human P134Rfsx34 c.401_402delCT Exon 5 5
Frameshift: Insertion Human Δ248–274, 275X c.807insT Exon 8. An insertion of thymine at nucleotide position 807 results in a frameshift and missense of amino acids 248-274 before a stop codon and prematurely truncated protein. 3
In-frame duplication Human W78_L80dup 300dup(9) Duplication of 9 nucleotides in exon 4 leads to 3 duplicated amino acid residues 3
Missense Human R64C c.256C>T Exon 4 3
Missense Human V107G c.320T>G Exon 4 5
Missense Human R217C c.715C>T Exon 7 3
Nonsense Human Q18X c.13C>T Exon 1 3
Nonsense Human R46X c.136C>T Exon 2 5
Nonsense Human W139X c.481G>A Exon 5 3
Nonsense Human R448X c.1408C>T Exon 12 3
Splice site Human Δ395-418,419 c.1249G>C Exon 10 3
Splice site Human IVS4-9T>C 5
Disease:  Multiple pterygium syndrome, lethal type; LMPS
Description: A fetal akinesia deformation sequence (FADS) disorder
Synonyms: Lethal multiple pterygium syndrome [Orphanet: ORPHA33108]
OMIM: 253290
Orphanet: ORPHA33108
References:  4-5
Click column headers to sort
Type Species Amino acid change Nucleotide change Description Reference
Frameshift: Deletion Human P251PfsX46 c.753_754delCT Exon 7 5
Frameshift: Duplication Human V154SfsX24 c.469dupA Exon 5 5
Missense Human V107G c.320T>G Exon 4 5

References

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1. Cossins J, Webster R, Maxwell S, Burke G, Vincent A, Beeson D. (2004) A mouse model of AChR deficiency syndrome with a phenotype reflecting the human condition. Hum. Mol. Genet.13 (23): 2947-57. [PMID:15471888]

2. Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. (1991) Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics9 (2): 278-82. [PMID:2004777]

3. Hoffmann K, Muller JS, Stricker S, Megarbane A, Rajab A, Lindner TH, Cohen M, Chouery E, Adaimy L, Ghanem I et al.. (2006) Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet.79 (2): 303-12. [PMID:16826520]

4. Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N et al.. (2008) Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. Am. J. Hum. Genet.82 (2): 464-76. [PMID:18252226]

5. Morgan NV, Brueton LA, Cox P, Greally MT, Tolmie J, Pasha S, Aligianis IA, van Bokhoven H, Marton T, Al-Gazali L et al.. (2006) Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet.79 (2): 390-5. [PMID:16826531]

6. Shibahara S, Kubo T, Perski HJ, Takahashi H, Noda M, Numa S. (1985) Cloning and sequence analysis of human genomic DNA encoding gamma subunit precursor of muscle acetylcholine receptor. Eur. J. Biochem.146 (1): 15-22. [PMID:3967651]

7. Takahashi M, Kubo T, Mizoguchi A, Carlson CG, Endo K, Ohnishi K. (2002) Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors. EMBO Rep.3 (7): 674-81. [PMID:12101101]

8. Witzemann V, Stein E, Barg B, Konno T, Koenen M, Kues W, Criado M, Hofmann M, Sakmann B. (1990) Primary structure and functional expression of the alpha-, beta-, gamma-, delta- and epsilon-subunits of the acetylcholine receptor from rat muscle. Eur. J. Biochem.194 (2): 437-48. [PMID:1702709]

How to cite this page

Cecilia Gotti, Michael. J. Marks, Neil S. Millar, Susan Wonnacott.
Nicotinic acetylcholine receptors: nicotinic acetylcholine receptor γ subunit. Last modified on 21/05/2015. Accessed on 01/09/2015. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=475.