Gene: LOC105369689

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: ABCC9

Alternate names for this Gene: ABC37|ATFB12|CANTU|CMD1O|SUR2

Gene Summary: The protein encoded by this 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 multi-drug resistance. This protein is thought to form ATP-sensitive potassium channels in cardiac, skeletal, and vascular and non-vascular smooth muscle. Protein structure suggests a role as the drug-binding channel-modulating subunit of the extra-pancreatic ATP-sensitive potassium channels. Mutations in this gene are associated with cardiomyopathy dilated type 1O. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12p12.1

Description of this Gene: ATP binding cassette subfamily C member 9

Type of Gene: protein-coding

rs387906805 in LOC105369689;ABCC9 gene and ATRIAL FIBRILLATION, FAMILIAL, 12 PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

rs1555179320 in LOC105369689;ABCC9 gene and Dysmorphic features PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

rs1555179320 in LOC105369689;ABCC9 gene and Multiple congenital anomalies PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

rs1555179320 in LOC105369689;ABCC9 gene and Overgrowth PMID 16835932 2006 Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

PMID 22608503 2012 Cantú syndrome is caused by mutations in ABCC9.

PMID 22610116 2012 Dominant missense mutations in ABCC9 cause Cantú syndrome.

PMID 23307537 2013 Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.

PMID 15034580 2004 ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating.

PMID 21344641 2011 Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

PMID 10398267 1999 Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome.

PMID 17245405 2007 KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.