S12A3 Rabbit Polyclonal Antibody, 20ul Oligo Pool Mutations in this gene can

Mutations in this gene can cause radio-ulnar synostosis with amegakaryocytic thrombocytopenia

YWHAH contains a 7 bp repeat sequence in its 5' UTR

Plays a role in the regulation of the cell cycle and of the Wnt pathway

and are involved in long-term potentiation

2004 [PubMed 14744536])

S12A3 Rabbit Polyclonal Antibody, 20ul Oligo Pool Mutations in this gene canThis gene encodes a renal thiazide sensitive sodium chloride cotransporter that is important for electrolyte homeostasis. This cotransporter mediates sodium and chloride reabsorption in the distal convoluted tubule. Mutations in this gene cause Gitelman syndrome a disease similar to Bartter's syndrome that is characterized by hypokalemic alkalosis combined with hypomagnesemia low urinary calcium and increased renin activity associated with normal