KCNF1 Chromosome 2
Potassium voltage-gated channel modifier subfamily F member 1
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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 F. This gene is intronless and expressed in all tissues tested, including the heart, skeletal muscle, brain, kidney, and pancreas. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Potassium voltage-gated channels
Locus Type
gene with protein product
Location
2p25.1
Ensembl
ENSG00000162975
Associated Conditions (1)
Moyamoya angiopathy
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1661571229 | Health Risk | Likely pathogenic | Moyamoya angiopathy, Moyamoya angiopathy |