Details for Gene ABCC9

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

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