ABCA12 | ABCA subfamily | IUPHAR/BPS Guide to PHARMACOLOGY

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ABCA12

Target id: 766

Nomenclature: ABCA12

Systematic Nomenclature: ABCA12

Family: ABCA subfamily

Annotation status:  image of a grey circle Awaiting annotation/under development. Please contact us if you can help with annotation.  » Email us

   GtoImmuPdb view: OFF :     Currently no data for ABCA12 in GtoImmuPdb

Gene and Protein Information
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human - 2595 2q34 ABCA12 ATP binding cassette subfamily A member 12
Mouse - - 1 35.81 cM Abca12 ATP-binding cassette, sub-family A (ABC1), member 12
Rat - - 9q33 Abca12 ATP binding cassette subfamily A member 12
Previous and Unofficial Names
ICR2B | LI2 | ichthyosis congenita II, lamellar ichthyosis B | ATP-binding cassette sub-family A member 12 | ATP-binding cassette, subfamily A (ABC1), member 12 | ATP-binding cassette
Database Links
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
UniProtKB
Wikipedia
Clinically-Relevant Mutations and Pathophysiology
Disease:  Congenital non-bullous ichthyosiform erythroderma
Orphanet: ORPHA79394
References:  1
Disease:  Ichthyosis, congenital, autosomal recessive 4A; ARCI4A
Synonyms: Lamellar ichthyosis [Orphanet: ORPHA313]
OMIM: 601277
Orphanet: ORPHA313
Disease:  Ichthyosis, congenital, autosomal recessive 4B; ARCI4B
Synonyms: Harlequin ichthyosis [Orphanet: ORPHA457]
OMIM: 242500
Orphanet: ORPHA457
References:  2

References

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1. Nawaz S, Tariq M, Ahmad I, Malik NA, Baig SM, Dahl N, Klar J. (2012) Non-bullous congentital ichthyosiform erythroderma associated with homozygosity for a novel missense mutation in an ATP binding domain of ABCA12. Eur J Dermatol, 22 (2): 178-81. [PMID:22257947]

2. Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. (2013) Autosomal recessive congenital ichthyosis. Actas Dermosifiliogr, 104 (4): 270-84. [PMID:23562412]

Contributors

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How to cite this page

Mary Vore.
ABCA subfamily: ABCA12. Last modified on 10/08/2015. Accessed on 21/11/2018. IUPHAR/BPS Guide to PHARMACOLOGY, http://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=766.