KCNJ11

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]

Description

potassium inwardly-rectifying channel, subfamily J, member 11

Protein family

Membrane proteins predicted by MDM, Voltage-gated ion channels

Chromosome

11:p15.1 (17407406 - 17410878)

Ensembl ID

ENSG00000187486  (ver. 69.37)

Orthologs

Mouse Kcnj11: ENSMUSG00000096146

Human splice variants
Mouse splice variants