RN135 Polyclonal Antibody, 50ul Peripheral Blood Separation Tube While it may be a

While it may be a target for immunotherapy| the function of this gene is unknown

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

It was suggested that kanadaptin is an adaptor protein or chaperone involved in targeting kAE1 to the plasma membrane

Mutations in this gene have also been associated with various cancers

RN135 Polyclonal Antibody, 50ul Peripheral Blood Separation Tube While it may be aThe 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.