S12A1 Rabbit Polyclonal Antibody, 20ul Pathway and Network Analysis Defects in this gene are

Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59)

Serine/threonine-protein kinase mTOR acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex

This protein is also a p53-regulated neurogenic factor involved in p53 dependent neuronal differentiation

(PMID: 20173098 ) From BLAST result

Additional variants have been

S12A1 Rabbit Polyclonal Antibody, 20ul Pathway and Network Analysis Defects in this gene areThis gene encodes a kidney specific sodium potassium chloride cotransporter that is expressed on the luminal membrane of renal epithelial cells of the thick ascending limb of Henle's loop and the macula densa. It plays a key role in concentrating urine and accounts for most of the NaCl resorption. It is sensitive to such diuretics as furosemide and bumetanide. Some Bartter like syndromes result from defects in this gene. Alternative splicing results