ABCC6
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| ATP-binding cassette, sub-family C (CFTR/MRP), member 6 | |||||||||||||
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| Identifiers | |||||||||||||
| Symbols | ABCC6 ; ABC34; ARA; EST349056; GACI2; MLP1; MOAT-E; MOATE; MRP6; PXE; PXE1; URG7 | ||||||||||||
| External IDs | OMIM: 603234 MGI: 1351634 HomoloGene: 55559 GeneCards: ABCC6 Gene | ||||||||||||
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| Orthologs | |||||||||||||
| Species | Human | Mouse | |||||||||||
| Entrez | 368 | 27421 | |||||||||||
| Ensembl | ENSG00000091262 | ENSMUSG00000030834 | |||||||||||
| UniProt | O95255 | Q9R1S7 | |||||||||||
| RefSeq (mRNA) | NM_001079528 | NM_018795 | |||||||||||
| RefSeq (protein) | NP_001072996 | NP_061265 | |||||||||||
| Location (UCSC) | Chr 16: 16.15 – 16.22 Mb |
Chr 7: 45.98 – 46.03 Mb |
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| PubMed search | [1] | [2] | |||||||||||
Multidrug resistance-associated protein 6 (MRP6) also known as ATP-binding cassette sub-family C member 6 (ABCC6) and multi-specific organic anion transporter E (MOAT-E) is a protein that in humans is encoded by the ABCC6 gene.[1][2][3] The protein encoded by the ABCC6 gene is a member of the superfamily of ATP-binding cassette (ABC) transporters.[1]
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.[4]
Pathology
Mutations in this protein cause pseudoxanthoma elasticum (PXE).[5] The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.[6][7]
Premature atherosclerosis is also associated with mutations in the ABCC6 gene, even in those without PXE.[8]
References
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External links
- GeneReviews/NIH/NCBI/UW entry on Pseudoxanthoma Elasticum
- ABCC6 protein, human at the US National Library of Medicine Medical Subject Headings (MeSH)
- Membrane Topology Model of Human ABCC6 protein
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