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ABCA12

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Target not currently curated in GtoImmuPdb

Target id: 766

Nomenclature: ABCA12

Systematic Nomenclature: ABCA12

Family: ABCA subfamily

Gene and Protein Information Click here for help
Species TM AA Chromosomal Location Gene Symbol Gene Name Reference
Human 14 2595 2q35 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 Click here for help
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 Click here for help
Alphafold
Ensembl Gene
Entrez Gene
Human Protein Atlas
KEGG Gene
OMIM
Orphanet
Pharos
UniProtKB
Wikipedia
Clinically-Relevant Mutations and Pathophysiology Click here for help
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]

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