Details for Gene ABCC8

GENE NAME ABCC8
CHROMOSOME 11
ENSEMBL ID ENSG00000006071
ENTREZ ID 6833
UNIPROT ACCESSION NUMBER Q09428
GO MOLECULAR FUNCTION ATP-activated inward rectifier potassium channel activity
ESSENTIAL IN MOUSE Non-essential
PATHWAYS R-HSA-1430728; R-HSA-1296025; R-HSA-5619084; R-HSA-112316; R-HSA-1296071; R-HSA-5619115; R-HSA-1296065; R-HSA-5683177; hsa04930; R-HSA-1643685; hsa02010; R-HSA-163685; hsa04911; R-HSA-422356
2 combinations linked to ABCC8 OLI005; OLI004
2 variants linked to ABCC8 ABCC8:c.3976G>A, p.Glu1326Lys; ABCC8:c.3394G>A, p.Asp1132Asn
2 diseases linked to ABCC8 Pulmonary arterial hypertension associated with congenital heart disease; Idiopathic pulmonary arterial hypertension

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