AffiAB® Anti-Kir6.2 Antibody

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. The encoded protein, which has a greater tendency to allow Potassium to flow into a cell rather than out of a cell, is controlled by G-proteins and is found associated with the sulfonylurea receptor SUR. Mutations in this gene are a cause of familial persistent hyperinsulinemic hypoglycemia of infancy (PHHI) , an autosomal recessive Disfect characterized by unregulated insulin secretion. Defects in this gene may also contribute to autosomal dominant non-insulin-dependent diabetes mellitus type II (NIDDM) , transient neonatal diabetes mellitus type 3 (TNDM3) , and permanent neonatal diabetes mellitus (PNDM) . Multiple Alternative spliced ​​transcript variants that encode different protein isoforms have been described for this gene.