KCNG1

Chr 20

potassium voltage-gated channel modifier subfamily G member 1

Also known as: K13, KCNG, KV6.1, kH2

NCBI Gene: 3755 ENSG00000026559 UniProt: Q9UIX4 OMIM: 603788

This gene encodes a regulatory alpha-subunit of voltage-gated potassium channels that modulates channel gating kinetics when coassembled with KCNB1 or KCNB2, but does not form functional channels independently. Mutations in KCNG1 cause autosomal recessive spinocerebellar ataxia type 13, a neurodegenerative disorder affecting coordination and movement. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.753), and inheritance follows an autosomal recessive pattern.

OMIM ResearchSummary from RefSeq, UniProt

Voltage-gated potassium (Kv) channels represent the most complex class of voltage-gated ion channels from both functional and structural standpoints. Their diverse functions include regulating neurotransmitter release, heart rate, insulin secretion, neuronal excitability, epithelial electrolyte transport, smooth muscle contraction, and cell volume. This gene encodes a member of the potassium channel, voltage-gated, subfamily G. This gene is abundantly expressed in skeletal muscle. Multiple alternatively spliced transcript variants have been found in normal and cancerous tissues. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.75

LOEUF

Multiple*

Mechanism· predicted