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Gene and Protein Information ![]() |
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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 member 12 | |
Rat | - | - | 9q33 | Abca12 | ATP binding cassette subfamily A member 12 |
Database Links ![]() |
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Alphafold | Q86UK0 (Hs) |
Ensembl Gene | ENSG00000144452 (Hs), ENSMUSG00000050296 (Mm), ENSRNOG00000015248 (Rn) |
Entrez Gene | 26154 (Hs), 74591 (Mm), 301482 (Rn) |
Human Protein Atlas | ENSG00000144452 (Hs) |
KEGG Gene | hsa:26154 (Hs), mmu:74591 (Mm), rno:301482 (Rn) |
OMIM | 607800 (Hs) |
Orphanet | ORPHA117620 (Hs) |
Pharos | Q86UK0 (Hs) |
UniProtKB | Q86UK0 (Hs) |
Wikipedia | ABCA12 (Hs) |
Clinically-Relevant Mutations and Pathophysiology ![]() |
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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]