ABCC1 Chromosome 16
ATP binding cassette subfamily C member 1 (ABCC1 blood group)
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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
RS45511401
drug response
Atorvastatin response, Atorvastatin response
Drug Response
RS35628
association
Familial cancer of breast, Familial cancer of breast
Health Risk
RS3888565
association
Familial cancer of breast, Familial cancer of breast
Health Risk
RS4148353
association
Familial cancer of breast, Familial cancer of breast
Health Risk
RS201761081
Conflicting classifications of pathogenicity
Health Risk
RS199797323
Pathogenic
Hearing loss, autosomal dominant 77, Hearing loss
Health Risk
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 |