KCNJ16

KCNJ16 is a gene that encodes the protein Kir5.1, a member of the potassium channel, inwardly rectifying (Kir) subfamily. This protein, along with another protein Kir4.1, forms a heterotetramer channel that facilitates potassium ion permeability in kidney cells. This channel plays a crucial role in maintaining the electrochemical gradient across the cell membrane, which is essential for normal cell function.

Function

The KCNJ16 gene provides instructions for making a protein that forms a part of potassium channels in the cell membranes. These channels, which transport potassium ions into and out of cells, play a key role in a cell's ability to generate and transmit electrical signals.

The Kir5.1 protein interacts with another protein, Kir4.1, to form a channel known as Kir4.1/Kir5.1. This channel is found in the basolateral membrane of cells in the kidney's distal convoluted tubule and connecting tubule, where it helps to regulate the amount of potassium, sodium, and chloride ions in the body.

Clinical significance

Mutations in the KCNJ16 gene can lead to a variety of health conditions. For instance, a specific mutation in this gene has been associated with East Asian hypertensive syndrome, a condition characterized by high blood pressure and a low level of potassium in the blood.

See also

• Inward-rectifier potassium ion channels
• Potassium channel

External links

• KCNJ16 at NCBI
• KCNJ16 at Genetics Home Reference