ABCC6
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). 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
[edit | edit source]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]
Deficiency of Abcc6 in mouse models of ischemia leads to larger infarcts, which can be rescued by Abcc6 overexpression.[9]
Location
[edit | edit source]Abcc6 gene encodes an intracellular transporter associated with mitochondrial function, located in the mitochondrial-associated membrane (MAM), whereas its substrate can be located in either MAM, cytosol or ER.[10] Abcc6 is primarily expressed in liver and kidney,.[11][12]
References
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External links
[edit | edit source]- GeneReviews/NIH/NCBI/UW entry on Pseudoxanthoma Elasticum
- ABCC6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
- Membrane Topology Model of Human ABCC6 protein
- Human ABCC6 genome location and ABCC6 gene details page in the UCSC Genome Browser.
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