Aliases for KCNJ13 Gene
External Ids for KCNJ13 Gene
Previous GeneCards Identifiers for KCNJ13 Gene
This gene encodes a member of the inwardly rectifying potassium channel family of proteins. Members of this family form ion channel pores that allow potassium ions to pass into a cell. The encoded protein belongs to a subfamily of low signal channel conductance proteins that have a low dependence on potassium concentration. Mutations in this gene are associated with snowflake vitreoretinal degeneration. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]
GeneCards Summary for KCNJ13 Gene
KCNJ13 (Potassium Inwardly Rectifying Channel Subfamily J Member 13) is a Protein Coding gene. Diseases associated with KCNJ13 include Vitreoretinal Degeneration, Snowflake Type and Leber Congenital Amaurosis 16. Among its related pathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Collagen chain trimerization. Gene Ontology (GO) annotations related to this gene include inward rectifier potassium channel activity. An important paralog of this gene is KCNJ10.
UniProtKB/Swiss-Prot Summary for KCNJ13 Gene
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. KCNJ13 has a very low single channel conductance, low sensitivity to block by external barium and cesium, and no dependence of its inward rectification properties on the internal blocking particle magnesium.
The inward-rectifier potassium channel family (also known as 2-TM channels) include the strong inward-rectifier channels (Kir2.x), the G-protein-activated inward-rectifier channels (Kir3.x) and the ATP-sensitive channels (Kir6.x), which combine with sulphonylurea receptors.