ABCC6
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ATP-binding cassette, sub-family C (CFTR/MRP), member 6
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| Identifiers | |
| Symbol | ABCC6 ARA, PXE |
| HUGO | 57 |
| 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.
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