KCNH8 Chromosome 3

Potassium voltage-gated channel subfamily H member 8

1 variant 1 Health Risk

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What This Gene Does

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 H. This member is a pore-forming (alpha) subunit. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"Potassium voltage-gated channels|PAS domain containing"

Locus Type

gene with protein product

Location

3p24.3

Ensembl

ENSG00000183960

Associated Conditions (1)

Action myoclonus-renal failure syndrome

Key Variants

RS565744148

Likely pathogenic

Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS565744148	Health Risk	Likely pathogenic	Action myoclonus-renal failure syndrome, Action myoclonus-renal failure syndrome