Memorial Day Offer

Discover your mystery discount!

ABCC9

Function of ABCC9: – Protein encoded by gene is part of ABC transporter superfamily. – ABC proteins transport molecules across membranes. – ABC genes divided […]

« Back to Glossary Index

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.

ABCC9 (Wikipedia)

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
Identifiers
AliasesABCC9, ABC37, ATFB12, CANTU, CMD1O, SUR2, ATP binding cassette subfamily C member 9, IDMYS
External IDsOMIM: 601439 MGI: 1352630 HomoloGene: 56521 GeneCards: ABCC9
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_005691
NM_020297
NM_020298
NM_001377273
NM_001377274

RefSeq (protein)

NP_005682
NP_064693
NP_001364202
NP_001364203

NP_001038185
NP_001297072
NP_035641
NP_066378
NP_066379

Location (UCSC)Chr 12: 21.8 – 21.94 MbChr 6: 142.53 – 142.65 Mb
PubMed search
Wikidata
View/Edit HumanView/Edit Mouse
« Back to Glossary Index
This site uses cookies to offer you a better browsing experience. By browsing this website, you agree to our use of cookies.