The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/1000. Detects a band of approximately 160 kDa (predicted molecular weight: 111 kDa).
Electrically silent transporter system. Mediates sodium and chloride reabsorption.
Predominant in kidney.
Involvement in disease
Defects in SLC12A3 are the cause of Gitelman syndrome (GS) [MIM:263800]. GS is an autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. GS has overlapping features with Bartter syndrome.