solute carrier family 12 member 1
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Fetal anomalies
BIALLELIC, autosomal or pseudoautosomalNephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomalRenal tubulopathies
BIALLELIC, autosomal or pseudoautosomalMonogenic nephrogenic diabetes insipidus
BIALLELIC, autosomal or pseudoautosomalBartter disease type 1
Bartter syndrome
nephrotic syndrome
hypertensive disorder
congestive heart failure
kidney disorder
cirrhosis of liver
heart failure
cardiovascular disorder
Hypertension
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Solute carrier family 12 member 1
Renal sodium, potassium and chloride non-electrogenic ion symporter that mediates the transepithelial NaCl reabsorption in the thick ascending limb and plays an essential role in the urinary concentration and volume regulation (PubMed:21321328). It can substitute NH4(+) for K(+), enabling NH4(+) apical transmembrane transport in the medullary thick ascending limb (MTAL). This function is crucial for maintaining ammonium homeostasis by the kidney, particularly during metabolic acidosis (By similarity)
Curated MONDO disease pages that list SLC12A1 among their top associated genes.
SLC12A1 · Q13621
Mean pLDDT
78.2/ 100
Confident
1,099 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
