potassium inwardly rectifying channel subfamily J member 1
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Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalNephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalRenal tubulopathies
BIALLELIC, autosomal or pseudoautosomalAmelogenesis imperfecta
BIALLELIC, autosomal or pseudoautosomalBartter syndrome
antenatal Bartter syndrome
polyarteritis nodosa
hereditary disease
gastric ulcer
hemorrhage
prostate cancer
Familial prostate cancer
clear cell renal carcinoma
familial idiopathic steroid-resistant nephrotic syndrome
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
ATP-sensitive inward rectifier potassium channel 1
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium. In the kidney, probably plays a major role in potassium homeostasis
KCNJ1 · P48048
Mean pLDDT
84.9/ 100
Confident
391 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
