ALPK3 alpha kinase 3
Gene ID: 57538, updated on 2-Nov-2024Gene type: protein coding
Also known as: MAK; CMH27; MIDORI
- See all available tests in GTR for this gene
- Go to complete Gene record for ALPK3
- Go to Variation Viewer for ALPK3 variants
Summary
Predicted to enable ATP binding activity; histone H2AS1 kinase activity; and protein serine kinase activity. Predicted to be involved in cardiac muscle cell development. Predicted to be active in nucleus. Implicated in familial hypertrophic cardiomyopathy. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cardiomyopathy, familial hypertrophic 27 | See labs |
| Genome-wide association analysis of age-at-onset in Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. GeneReviews: Not available |
Genomic context
- Location:
- 15q25.3
- Sequence:
- Chromosome: 15; NC_000015.10 (84817356..84873479)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALPK3 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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