ABCC6
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ATP-binding cassette, sub-family C (CFTR/MRP), member 6
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Identifiers | |
Symbol(s) | ABCC6 ARA, PXE |
Entrez | 368 |
OMIM | 603234 |
RefSeq | NM_001171 |
UniProt | O95255 |
Other data | |
Locus | Chr. 16 p13.1 |
The protein encoded by the ABCC6 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 protein is a member of the MRP subfamily which is involved in multidrug resistance. Mutations in this protein cause pseudoxanthoma elasticum (PXE). The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.