KCNJ10

Description

The KCNJ10 (potassium inwardly rectifying channel subfamily J member 10) is a protein-coding gene located on chromosome 1.

KCNJ10 gene encodes Kir4.1, a member of the inward rectifier potassium channel family. Kir4.1 may form a heterodimer with another potassium channel protein and is responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene can cause EAST syndrome, a disorder characterized by Epilepsy, Ataxia, Sensorineural deafness, and Tubulopathy. Kir4.1 is also expressed in the Stria vascularis and is crucial for endolymph formation, the fluid surrounding the sensory hair cells responsible for hearing. KCNJ10 expression is upregulated by MeCP2, a transcription factor, and its deficiency leads to reduced Kir4.1 channels on astrocytes, potentially contributing to Rett syndrome.

KCNJ10 is also known as BIRK-10, KCNJ13-PEN, KIR1.2, KIR4.1, SESAME.

Associated Diseases

• Pendred syndrome
• Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
• EAST syndrome
• Deafness, autosomal recessive 4, with enlarged vestibular aqueduct