Gene Symbol | TAP1 |
Entrez Gene ID | 6890 |
Full Name | transporter 1, ATP binding cassette subfamily B member |
Synonyms | ABC17,ABCB2,APT1,D6S114E,PSF-1,PSF1,RING4,TAP1*0102N,TAP1N |
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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in the pumping of degraded cytosolic peptides across the endoplasmic reticulum into the membrane-bound compartment where class I molecules assemble. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2014]. |
Disorder MIM: | |
Disorder Html: | Bare lymphocyte syndrome, type I, 604571 (3) |