ABCC6

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ATP-binding cassette, sub-family C (CFTR/MRP), member 6
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.