KCNJ10

KCNJ10 encodes an inwardly rectifying potassium channel protein, also known as Kir4.1. It is a member of the inward-rectifier potassium channel family. These channels are characterized by their ability to conduct potassium ions more easily into the cell than out of the cell, at membrane potentials near the potassium equilibrium potential.

The KCNJ10 protein is primarily expressed in astrocytes in the brain, where it plays a crucial role in maintaining extracellular potassium homeostasis. It is also found in other tissues, including the kidney and inner ear.

In astrocytes, KCNJ10 helps to buffer spatial potassium levels in the extracellular space, preventing neuronal hyperexcitability. It contributes to the regulation of neuronal excitability and synaptic transmission. Dysfunctional KCNJ10 has been implicated in several neurological disorders, including epilepsy, schizophrenia, and familial hypokalemic periodic paralysis (Andersen's syndrome).

In the kidney, KCNJ10 is localized to the distal convoluted tubule and the collecting duct, where it participates in potassium secretion and sodium reabsorption. It plays a critical role in maintaining electrolyte balance and blood pressure.

Mutations in the KCNJ10 gene can lead to various disorders, including EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy), also known as SESAMES syndrome (seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance syndrome).

Research continues to explore the precise roles of KCNJ10 and its implications for human health and disease.