ABCC11 Chromosome 16
ATP binding cassette subfamily C member 11
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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 ABC full transporter is a member of the MRP subfamily which is involved in multi-drug resistance. The product of this gene participates in physiological processes involving bile acids, conjugated steroids, and cyclic nucleotides. In addition, a SNP in this gene is responsible for determination of human earwax type. This gene and family member ABCC12 are determined to be derived by duplication and are both localized to chromosome 16q12.1. Multiple alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
ATP binding cassette subfamily C
Locus Type
gene with protein product
Location
16q12.1
Ensembl
ENSG00000121270
Associated Conditions (2)
APOCRINE GLAND SECRETION
VARIATION IN
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148539097 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS387906296 | Trait | Affects | APOCRINE GLAND SECRETION, VARIATION IN, APOCRINE GLAND SECRETION |