GENE NAME | ABCC9 |
CHROMOSOME | 12 |
ENSEMBL ID | ENSG00000069431 |
ENTREZ ID | 10060 |
UNIPROT ACCESSION NUMBER | O60706 |
GO MOLECULAR FUNCTION | ATPase-coupled cation transmembrane transporter activity; transmembrane transporter activity; potassium channel activity; ATP binding; ATPase-coupled transmembrane transporter activity; cation channel activity; ATP-activated inward rectifier potassium channel activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1296065; R-HSA-5678420; R-HSA-5619115; R-HSA-1296071; R-HSA-112316; R-HSA-397014; R-HSA-5576891; R-HSA-5578775; R-HSA-5619084; R-HSA-1296025; R-HSA-382551; R-HSA-382556; hsa02010; hsa02010; R-HSA-1643685 |
1 combination linked to ABCC9 | OLI232 |
1 variant linked to ABCC9 | ABCC9:c.3594G>A, p.Met1198Ile |
2 diseases linked to ABCC9 | Left ventricular noncompaction; Rubinstein-Taybi syndrome |