ABCC9
Function of ABCC9: – Protein encoded by gene is part of ABC transporter superfamily. – ABC proteins transport molecules across membranes. – ABC genes divided […]
Function of ABCC9:
– Protein encoded by gene is part of ABC transporter superfamily.
– ABC proteins transport molecules across membranes.
– ABC genes divided into 7 subfamilies.
– Protein is in MRP subfamily related to drug resistance.
– Involved in forming potassium channels in muscle.
Clinical Significance:
– Associated with dilated cardiomyopathy and Cantú syndrome.
– Variant linked to sleep duration in humans.
– ABCC9 gene variants linked to vocal pitch.
– First genetic locus associated with vocal pitch.
– Study involving 12,901 individuals demonstrated link.
Research and Studies:
– Various studies linking gene to different conditions.
– Research on assembly and structure of KATP channels.
– Studies on mutations disrupting KATP channel gating.
– Identification of genetic mutations causing Cantú syndrome.
– Genetic factor regulating sleep duration.
– Studies on internalization of vascular K+ channels.
– Research on human protein-protein interaction network.
– Role of KATP channels in survival during infection.
– Actions of syntaxin-1A on cardiac KATP channels.
– Association studies between genetic polymorphisms and traits.
External Links and References:
– ABCC9 human gene location in the UCSC Genome Browser.
– ABCC9 human gene details in the UCSC Genome Browser.
– Article incorporates text from the United States National Library of Medicine.
– Membrane proteins, carrier proteins: membrane transport proteins ABC transporter (TC 3A1).
– A12, A13, B2-3 (B2, B3), B11, C8-9 (C8, C9), C10, C11, C13, Sterolin (G5, G8).
Related Information:
– ABC transporter disorders.
– Gene located on human chromosome 12.
– Article is a stub that can be expanded.
– Retrieved from https://en.wikipedia.org/w/index.php?title=ABCC9&oldid=1199547307.
– Categories: Genes on human chromosome 12, Human chromosome 12 gene stubs.
– Hidden Categories: Articles with short description, Short description is different from Wikidata, Wikipedia articles incorporating text from the United States National Library of Medicine, All stub articles.
ATP-binding cassette, sub-family C member 9 (ABCC9) also known as sulfonylurea receptor 2 (SUR2) is an ATP-binding cassette transporter that in humans is encoded by the ABCC9 gene.
| ABCC9 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | ABCC9, ABC37, ATFB12, CANTU, CMD1O, SUR2, ATP binding cassette subfamily C member 9, IDMYS | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 601439 MGI: 1352630 HomoloGene: 56521 GeneCards: ABCC9 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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