ABCC6


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ABCC6

ATP-binding cassette sub-family C (CFTR/MRP) member 6. A gene on 16p13.1 that encodes a protein of the superfamily of ATP-binding cassette (ABC) transporters, which transport various molecules across extra- and intra-cellular membranes.

Significance
The encoded protein is involved in multi-drug resistance; mutations in ABCC6 cause pseudoxanthoma elasticum.
References in periodicals archive ?
Loss of ATP-dependent transport activity in pseudoxanthoma elasticumassociated mutants of human ABCC6 (MRP6).
4] Human genes: ABCC6, ATP-binding cassette, subfamily C (CFTR/MRP), member 6; CAT, catalase; GPXI, glutathione peroxidase 1; SOD2, superoxide dismutase 2, mitochondrial.
The lower fetuin-A concentrations found in the relative cohort may suggest that ABCC6 mutations are associated with increased calcification.
Mutations of the gene encoding the transmembrane transporter protein ABCC6 cause pseudoxanthoma elasticum.
Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations [Review].