KCNMA1 potassium calcium-activated channel subfamily M alpha 1
Gene ID: 3778, updated on 17-Jun-2024Gene type: protein coding
Also known as: SLO; BKTM; SLO1; hSlo; IEG16; LIWAS; MaxiK; PNKD3; SAKCA; mSLO1; CADEDS; KCa1.1; SLO-ALPHA; bA205K10.1
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- Go to complete Gene record for KCNMA1
- Go to Variation Viewer for KCNMA1 variants
Summary
This gene encodes the alpha subunit of calcium-activated BK channel. The encoded protein is involved in several physiological processes including smooth muscle contraction, neurotransmitter release and neuronal excitability. Mutations in this gene are associated with a spectrum of neurological disorders including Paroxysmal Nonkinesigenic Dyskinesia 3, Idiopathic Generalized Epilepsy 16 and Liang-Wang syndrome. [provided by RefSeq, Aug 2022]
Associated conditions
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| Description | Tests |
|---|---|
| Cerebellar atrophy, developmental delay, and seizures | See labs |
| Common genetic variants associated with cognitive performance identified using the proxy-phenotype method. GeneReviews: Not available | |
| Epilepsy, idiopathic generalized, susceptibility to, 16 | See labs |
| Gene-age interactions in blood pressure regulation: a large-scale investigation with the CHARGE, Global BPgen, and ICBP Consortia. GeneReviews: Not available | |
| Generalized epilepsy-paroxysmal dyskinesia syndrome | See labs |
| Genome wide association study identifies KCNMA1 contributing to human obesity. GeneReviews: Not available | |
| Genome-wide association analyses identify variants in developmental genes associated with hypospadias. GeneReviews: Not available | |
| Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. GeneReviews: Not available | |
| Genomic variation associated with mortality among adults of European and African ancestry with heart failure: the cohorts for heart and aging research in genomic epidemiology consortium. GeneReviews: Not available | |
| Liang-Wang syndrome | See labs |
Genomic context
- Location:
- 10q22.3
- Sequence:
- Chromosome: 10; NC_000010.11 (76869602..77637808, complement)
- Total number of exons:
- 45
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for KCNMA1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KCNMA1 database
- 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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