KCNK9
KCNK9 (also known as TASK3 or TWIK-related acid-sensitive K+ channel 3) is a protein that in humans is encoded by the KCNK9 gene. It is a member of the two-pore domain potassium channel family.
Function[edit | edit source]
KCNK9 is a potassium channel protein that contributes to the resting membrane potential and regulation of cellular excitability. It is sensitive to changes in pH, and is inhibited by acidification. KCNK9 is expressed in various tissues, with the highest levels found in the brain and kidney.
Clinical significance[edit | edit source]
Mutations in the KCNK9 gene have been associated with Birk-Barel syndrome, a rare genetic disorder characterized by mental retardation, hypotonia, hyperactivity, and distinctive facial features. The syndrome is inherited in an autosomal dominant manner.
Research[edit | edit source]
Research into the function and potential therapeutic applications of KCNK9 is ongoing. It has been suggested that KCNK9 may play a role in the regulation of neuronal excitability, and could therefore be a target for the treatment of neurological disorders such as epilepsy and pain.
See also[edit | edit source]
References[edit | edit source]
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Contributors: Prab R. Tumpati, MD
