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 | OLI004; OLI005 |
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 |