KCNH1 potassium voltage-gated channel subfamily H member 1
Gene ID: 3756, updated on 3-Dec-2024Gene type: protein coding
Also known as: EAG; EAG1; ZLS1; hEAG; TMBTS; h-eag; hEAG1; Kv10.1; K(V)10.1
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- Go to complete Gene record for KCNH1
- Go to Variation Viewer for KCNH1 variants
Summary
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. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association studies of pit-and-fissure- and smooth-surface caries in permanent dentition. GeneReviews: Not available | |
| Genome-wide association study on plasma levels of midregional-proadrenomedullin and C-terminal-pro-endothelin-1. GeneReviews: Not available | |
| Temple-Baraitser syndrome | See labs |
| Zimmermann-Laband syndrome 1 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2023-06-28) ClinGen Genome Curation PageHaploinsufficency |
Genomic context
- Location:
- 1q32.2
- Sequence:
- Chromosome: 1; NC_000001.11 (210678314..211134148, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCNH1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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