Gene Symbol | ABCA12 |
Entrez Gene ID | 26154 |
Full Name | ATP binding cassette subfamily A member 12 |
Synonyms | ARCI4A,ARCI4B,ICR2B,LI2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily, which is the only major ABC subfamily found exclusively in multicellular eukaryotes. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Ichthyosis, congenital, autosomal recessive 4A, 601277 (3); Ichthyosis, congenital, autosomal recessive 4B (harlequin), 242500 (3) |