Synonyms:ABC17, ABCB2, APT1, D6S114E, ENTREZ:6890, HGNC:43, MIM:170260, NM_000593, NM_001292022, NP_000584, NP_001278951, PSF-1, PSF1, RING4, TAP1, TAP1*0102N, TAP1N, transporter 1, ATP binding cassette subfamily B member
Id:ENSG00000227816
Description:transporter 1, ATP binding cassette subfamily B member [Source:HGNC Symbol;Acc:HGNC:43]
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]
