KCNJ8

Description 
potassium voltage-gated channel, subfamily J, member 8


This gene is composed of 2 exons and codes for an integral membrane protein that is an inward-rectifier type potassium (Kir) channel, which is controlled by G-proteins. This protein is voltage-dependent, and as extracellular levels of potassium rise, normally functioning protein allow for repolarization. Mutations in this gene have been associated with Sudden Infant Death syndrome (SIDS), J-wave syndromes and other disorders characterized by early repolarization.

Aliases 
KIR6.1, uKATP-1
Chromosomal Locations 
12p12.1
An alteration in this gene was identified in a patient who underwent diagnostic exome sequencing at Ambry Genetics.