KCTD7

KCTD7 (Potassium Channel Tetramerization Domain Containing 7) is a protein that in humans is encoded by the KCTD7 gene. This protein is part of the KCTD family, which is characterized by a variable N-terminal region and a conserved C-terminal region that is involved in oligomerization and binding of potassium channels.

Function

The KCTD7 protein is involved in the regulation of neuronal excitability by contributing to the functional modulation of potassium channels. It is expressed in various tissues, with the highest levels found in the brain and nervous system.

Clinical significance

Mutations in the KCTD7 gene are associated with a rare neurodegenerative disorder known as Progressive Myoclonus Epilepsy (PME). This condition is characterized by a combination of myoclonic and tonic-clonic (grand mal) seizures, ataxia, and dementia.

Research

Research into KCTD7 is ongoing, with studies focusing on understanding the role of this protein in normal cellular function and in disease states. This research may lead to new treatments for conditions such as PME.

See also

• Potassium channel
• Progressive Myoclonus Epilepsy
• Gene
• Protein

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