Background: Electrically silent transporter system. Mediates sodium and chloride reabsorption. Defects in SLC12A3 are the cause of Gitelman syndrome (GS). 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.
Description: Rabbit polyclonal to SLC12A3
Immunogen: KLH conjugated synthetic peptide derived from SLC12A3
Specificity: ·Reacts with Human, Mouse and Rat.
.·Isotype: IgG
Application: ·Western blotting: 1/100-500. Predicted Mol wt: 111 kDa;
·Immunohistochemistry (Paraffin/frozen tissue section): 1/100-500;
·Immunocytochemistry: 1/100-200;
·ELISA: 1/500;
·Optimal working dilutions must be determined by the end user.
