Synonyms:ABC18, ABCB3, APT2, D6S217E, ENTREZ:6891, HGNC:44, MIM:170261, NM_000544, NM_001290043, NM_018833, NP_000535, NP_001276972, NP_061313, PSF-2, PSF2, RING11, TAP2, transporter 2, ATP binding cassette subfamily B member
Id:ENSG00000206299
Description:transporter 2, ATP binding cassette subfamily B member [Source:HGNC Symbol;Acc:HGNC:44]
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. This gene is located 7 kb telomeric to gene family member ABCB2. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with ABCB2 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in this gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. Alternative splicing of this gene produces products which differ in peptide selectivity and level of restoration of surface expression of MHC class I molecules. [provided by RefSeq, Feb 2014]
