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 disorder 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 alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
SKU | Test Kits | Buffer | Dye Color | Order Now |
---|---|---|---|---|
KCNJ11-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
KCNJ11-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
KCNJ11-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
KCNJ11-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
KCNJ11-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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 disorder 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 alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2009]
Gene Symbol : KCNJ11
Gene Name : Potassium voltage-gated channel subfamily J member 11
Chromosome : CHR 11: 173,893,30-173,852,45
Locus : 11p15.1
Alt. Genes : FEM1B
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