AK5 adenylate kinase 5
Gene ID: 26289, updated on 28-Oct-2024Gene type: protein coding
Also known as: AK6
- See all available tests in GTR for this gene
- Go to complete Gene record for AK5
- Go to Variation Viewer for AK5 variants
Summary
This gene encodes a member of the adenylate kinase family, which is involved in regulating the adenine nucleotide composition within a cell by catalyzing the reversible transfer of phosphate groups among adenine nucleotides. This member is related to the UMP/CMP kinase of several species. It is located in the cytosol and expressed exclusively in brain. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Genomic context
- Location:
- 1p31.1
- Sequence:
- Chromosome: 1; NC_000001.11 (77282019..77559966)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AK5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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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