RN135 Polyclonal Antibody, 50ul Peripheral Blood Separation Tube Mutations in this gene have

Mutations in this gene have also been associated with various cancers

These proteins mediate signals to the interior of the cell via activation of heterotrimeric G proteins that in turn activate various effector proteins

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

Members of the ligand-gated ion channel receptor family are characterized by their fast transmitting response to neurotransmitters

RN135 Polyclonal Antibody, 50ul Peripheral Blood Separation Tube Mutations in this gene haveThe protein encoded by this gene contains a RING finger domain, a motif present in a variety of functionally distinct proteins and known to be involved in protein protein and protein DNA interactions. This gene is located in a chromosomal region known to be frequently deleted in patients with neurofibromatosis. Alternatively spliced transcript variants encoding distinct isoforms have been reported.