Potassium channel, Voltage-Gated, Subfamily H, Member 1

Alternative Names

  • KCNH1
  • Kv10.1
  • Ether-A-G0-G0, Drosophila, Homolog of
  • EAG

Associated Diseases

Temple-Baraitser Syndrome
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OMIM Number

603305

NCBI Gene ID

3756

Uniprot ID

O95259

Length

457,343 bases

No. of Exons

12

No. of isoforms

2

Protein Name

Potassium voltage-gated channel subfamily H member 1

Molecular Mass

111423 Da

Amino Acid Count

989

Genomic Location

chr1:210,676,823-211,134,165

Gene Map Locus
1q32.2

Description

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 of a voltage-gated non-inactivating delayed rectifier potassium channel. It is activated at the onset of myoblast differentiation. The gene is highly expressed in brain and in myoblasts. Overexpression of the gene may confer a growth advantage to cancer cells and favor tumor cell proliferation. Alternative splicing of this gene results in two transcript variants encoding distinct isoforms. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_172362.3:c.1123G>ALebanonchr1:210919979PathogenicPathogenicTemple-Baraitser SyndromeNG_029777.2:g.219137G>A; NM_172362.3:c.1123G>A; NP_758872.1:p.Gly375Arg730882174183415
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