Recombinant Human Inward rectifier potassium channel 13 (KCNJ13), Truncated

Uniprot Id

O60928

Target Species

Human

Target Name

KCNJ13

Target Full Name

Inward rectifier potassium channel 13

Target Function

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.

Target Involvement

Snowflake vitreoretinal degeneration (SVD); Leber congenital amaurosis 16 (LCA16)

Target Subcellular Location

Membrane; Multi-pass membrane protein.

Target Protein Families

Inward rectifier-type potassium channel (TC 1.A.2.1) family, KCNJ13 subfamily

Target Tissue Specificity

Predominantly expressed in small intestine. Expression is also detected in stomach, kidney, and all central nervous system regions tested with the exception of spinal cord.

Target Synonyms

KCNJ13; Inward rectifier potassium channel 13; Inward rectifier K(+ channel Kir7.1; Potassium channel, inwardly rectifying subfamily J member 13

Target Background

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.