ABCC1 Chromosome 16

ATP binding cassette subfamily C member 1 (ABCC1 blood group)
6 variants 1 Drug Response 5 Health Risk

Upload your DNA to see your personal genotypes for variants in ABCC1.

What This Gene Does
The 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 full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. This protein functions as a multispecific organic anion transporter, with oxidized glutatione, cysteinyl leukotrienes, and activated aflatoxin B1 as substrates. This protein also transports glucuronides and sulfate conjugates of steroid hormones and bile salts. Alternatively spliced variants of this gene have been described but their full-length nature is unknown. [provided by RefSeq, Apr 2012]
Gene Info
Gene Group
"Blood group antigens|ATP binding cassette subfamily C"
Locus Type
gene with protein product
Location
16p13.11
Ensembl
ENSG00000103222
Associated Conditions (4)
Atorvastatin response
Familial cancer of breast
Hearing loss
autosomal dominant 77
Key Variants
All Variants (6)
RSID Category Clinical Significance Conditions
RS45511401 Drug Response drug response Atorvastatin response, Atorvastatin response
RS35628 Health Risk association Familial cancer of breast, Familial cancer of breast
RS3888565 Health Risk association Familial cancer of breast, Familial cancer of breast
RS4148353 Health Risk association Familial cancer of breast, Familial cancer of breast
RS201761081 Health Risk Conflicting classifications of pathogenicity
RS199797323 Health Risk Pathogenic Hearing loss, autosomal dominant 77, Hearing loss
Sign Up to Analyze Your DNA Log In