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TAP1 transporter 1, ATP binding cassette subfamily B member

Gene ID: 6890, updated on 5-Jan-2022
Gene type: protein coding
Also known as: APT1; PSF1; ABC17; ABCB2; PSF-1; RING4; TAP1N; D6S114E; TAP1*0102N

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Bare lymphocyte syndrome type 1
MedGen: C1858266OMIM: 604571GeneReviews: Not available
See labs
Genome-wide association study identifies susceptibility loci for IgA nephropathy.
GeneReviews: Not available

Genomic context

Location:
6p21.32
Sequence:
Chromosome: 6; NC_000006.12 (32845209..32853704, complement)
Total number of exons:
12

Links

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