The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 µg/ml. Detects a band of approximately 46 kDa (predicted molecular weight: 46 kDa). Good results were obtained when blocked with 5% non-fat dry milk in 0.05% PBS-T.
Use a concentration of 4 - 8 µg/ml.
Use at an assay dependent concentration.
Titre using peptide based assay: 1:312500.
Electrically silent transporter system. Mediates sodium and chloride reabsorption. Plays a vital role in the regulation of ionic balance and cell volume.
Involvement in disease
Defects in SLC12A1 are the cause of Bartter syndrome type 1 (BS1) [MIM:601678]. BS refers to a group of autosomal recessive disorders characterized by impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and varying degrees of hypercalciuria. BS1 is a life-threatening condition beginning in utero, with marked fetal polyuria that leads to polyhydramnios and premature delivery. Another hallmark of BS1 is a marked hypercalciuria and, as a secondary consequence, the development of nephrocalcinosis and osteopenia.
Immunohistchemistry (Formalin/PFA-fixed paraffin-embedded sections) analysis of human kidney tissue labelling SLC12A1 with ab60301 at 4-8µg/ml. Arrows indicate positively labelled epithelial cells of the renal tubule. Magnification: 400X.