ABCC11

Chr 16AD

ATP binding cassette subfamily C member 11

Also known as: EWWD, MRP8, WW

NCBI Gene: 85320 ENSG00000121270 UniProt: Q96J66 OMIM: 607040

This ATP-binding cassette transporter actively exports physiological compounds including bile acids, conjugated steroids, cyclic nucleotides, and earwax components from cells. Mutations cause autosomal dominant conditions affecting earwax type (wet versus dry), axillary odor variation, and colostrum secretion differences. The gene is not highly constrained against loss-of-function variants, consistent with its role in determining normal human trait variations rather than causing severe disease.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…