ATP-binding cassette, sub-family C (CFTR/MRP), member 6, also known as ABCC6, is a human gene.^[1] The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.^[2]

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.^[3]

Pathology

Mutations in this protein cause pseudoxanthoma elasticum (PXE).^[4] The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.^[5][6]

Premature atherosclerosis is also associated with mutations in the ABCC6 gene, even in those without PXE.^[7]

References

External links

es:ABCC6

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