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.[5]
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.[6]
The ABCA12 gene is located on the long (q) arm of chromosome 2 between positions 34 and 35, from base pair 215,621,772 to base pair 215,828,656.
- ^ a b c GRCh38: Ensembl release 89: ENSG00000144452 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000050296 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Entrez Gene: ATP-binding cassette".
- ^ Y. Ishibashi; A. Kohyama-Koganeya; Y. Hirabayashi (2013). "New insights on glucosylated lipids: Metabolism and functions". Biochim. Biophys. Acta. 1831 (9): 1475–1485. doi:10.1016/j.bbalip.2013.06.001. PMID 23770033.