ATP-sensitive inward rectifier potassium channel 10 is a

protein Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...

that in humans is encoded by the ''KCNJ10''

gene In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...

Function

This gene encodes a member of the inward rectifier-type potassium channel family, K_ir4.1, characterized by having a greater tendency to allow potassium to flow into, rather than out of, a cell. K_ir4.1, may form a heterodimer with another potassium channel protein and may be responsible for the potassium buffering action of glial cells in the brain. Mutations in this gene have been associated with seizure susceptibility of common idiopathic generalized epilepsy syndromes.

EAST syndrome

Humans with

mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, m ...

s in the KCNJ10 gene that cause loss of function in related K⁺ channels can display

Epilepsy Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical ...

Ataxia Ataxia is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements. Ataxia is a clinical manifestation indicating dysfunction of t ...

, Sensorineural deafness and

Tubulopathy Tubulopathy is a disease affecting the renal tubules of the nephron The nephron is the minute or microscopic structural and functional unit of the kidney. It is composed of a renal corpuscle and a renal tubule. The renal corpuscle consists of ...

, the EAST syndrome ( Gitelman syndrome phenotype) reflecting roles for KCNJ10 gene products in the brain,

inner ear The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear. In vertebrates, the inner ear is mainly responsible for sound detection and balance. In mammals, it consists of the bony labyrinth, a hollow cavity in t ...

and

kidney The kidneys are two reddish-brown bean-shaped organs found in vertebrates. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal arteries; bloo ...

. The K_ir4.1 channel is expressed in the Stria vascularis and is essential for formation of the

endolymph Endolymph is the fluid contained in the membranous labyrinth of the inner ear. The major cation in endolymph is potassium, with the values of sodium and potassium concentration in the endolymph being 0.91 mM and 154 mM, respectively. ...

, the fluid that surrounds the mechanosensitive stereocilia of the sensory

hair cell Hair cells are the sensory receptors of both the auditory system and the vestibular system in the ears of all vertebrates, and in the lateral line organ of fishes. Through mechanotransduction, hair cells detect movement in their environment ...

s that make

hearing Hearing, or auditory perception, is the ability to perceive sounds through an organ, such as an ear, by detecting vibrations as periodic changes in the pressure of a surrounding medium. The academic field concerned with hearing is audit ...

possible.

Rett Syndrome

Rett syndrome is a neurological disorder characterized by a mutation in the MeCP2 gene. This mutation results in less MeCP2. KCNJ10 expression is upregulated by the transcription factor MeCP2. MeCP2 deficiency leads to less Kir4.1 channels present on astrocytes in the brain. Since there are fewer channels allowing potassium into the cells, extracellular potassium levels are higher. Higher extracellular potassium leaves neurons more easily excitable which could contribute to the epilepsy observed in many Rett Syndrome patients.

Interactions

KCNJ10 has been shown to interact with

Interleukin 16 Interleukin 16 is a pro-inflammatory pleiotropic cytokine. It's precursor, pro-interleukin-16 is a protein that in humans is encoded by the ''IL16'' gene. This gene was discovered in 1982 at Boston University by Dr. David Center and Dr. Willia ...

References

External links

GeneReviews/NCBI/NIH/UW entry on Pendred Syndrome/DFNB4
* Ion channels {{membrane-protein-stub