CD57 Polyclonal Antibody, 100ul[BT-AP02300] Plates & Dishes Mutations in this gene cause

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 blood pressure

Two transcript variants encoding different isoforms have been found for SLC6A11

It was reported to have phosphorylation-dependent DNA-primase activity

CNAS-certified laboratoryǥ finished products are authoritatively tested by third-party testing institutions Independent three-layer medical outer packaging

This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses

CD57 Polyclonal Antibody, 100ul[BT-AP02300] Plates & Dishes Mutations in this gene causeThe protein encoded by RBBP8 (RB binding protein 8, endonuclease) is a ubiquitously expressed nuclear protein. It is found among several proteins that bind directly to retinoblastoma protein, which regulates cell proliferation. This protein complexes with transcriptional co repressor CTBP. It is also associated with BRCA1 and is thought to modulate the functions of BRCA1 in transcriptional regulation, DNA repair, and or cell cycle checkpoint control.