ABCA12

Also known as ARCI4A, ARCI4B, ICR2B, LI2, ATP binding cassette subfamily A member 12

ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

Gene data

ABCA12

Name: ATP binding cassette subfamily A member 12
Type: protein-coding
Aliases: ARCI4A, ARCI4B, ICR2B, LI2

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].

via MyGene.info

Gene · Ensembl

ATP binding cassette subfamily A member 12

Symbol: ABCA12
Biotype: Protein coding
Organism: Homo sapiens
Location: 2:214,931,542-215,138,626
Strand: Reverse (−)
Assembly: GRCh38

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via Ensembl · EMBL-EBI

Wikidata facts

Show 5 more facts

HomoloGene ID: 45441
exact match: identifiers.org/ncbigene/26154
genomic end: 215138626
genomic start: 215796266
cytogenetic location: 2q35

Sources (4)

via Wikidata · CC0

~3 min read

Article

6 sections

Contents

Clinical significance
Harlequin-type ichthyosis
Lamellar ichthyosis type 2
References
Further reading
External links

ATP-binding cassette sub-family A member 12 also known as ATP-binding cassette transporter 12 is a protein that in humans is encoded by the ABCA12 gene.

ABCA12 belongs to a group of genes called the ATP-binding cassette family, which makes proteins that transport molecules across cell membranes. The ABCA12 gene is active in some types of skin cells and in several other tissues, such as testis, placenta, lung, stomach, and fetal brain and liver. This protein appears to be essential for normal development of the skin, which provides a barrier between the body and its surrounding environment. It transports epidermoside, a glucosylceramide, out of the keratinocytes of the stratum corneum of the epidermis.