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ABCC6 : ウィキペディア英語版
ABCC6

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.〔(【引用サイトリンク】 url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=368 )〕 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.
==Pathology==
Mutations in this protein cause pseudoxanthoma elasticum (PXE). The most common mutations, R1141X and 23-29del, account for about 25% of the found mutations.
Premature atherosclerosis is also associated with mutations in the ''ABCC6'' gene, even in those without PXE.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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