ALPK1 alpha kinase 1
Gene ID: 80216, updated on 23-Mar-2024Gene type: protein coding
Also known as: LAK; ROSAH; 8430410J10Rik
- See all available tests in GTR for this gene
- Go to complete Gene record for ALPK1
- Go to Variation Viewer for ALPK1 variants
Summary
This gene encodes an alpha kinase. Mice which were homozygous for disrupted copies of this gene exhibited coordination defects (PMID: 21208416). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association meta-analysis identifies new childhood obesity loci. GeneReviews: Not available | |
| Genome-wide association study of epirubicin-induced leukopenia in Japanese patients. GeneReviews: Not available | |
| Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome | See labs |
Genomic context
- Location:
- 4q25
- Sequence:
- Chromosome: 4; NC_000004.12 (112297369..112442621)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALPK1 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
- Variation ViewerRelated Variants
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