AK7 adenylate kinase 7
Gene ID: 122481, updated on 5-Mar-2024Gene type: protein coding
Also known as: AK 7; FAP75; CFAP75; SPGF27
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- Go to complete Gene record for AK7
- Go to Variation Viewer for AK7 variants
Summary
This gene encodes a member of the adenylate kinase family of enzymes. The encoded enzyme is a phosphotransferase that catalyzes the reversible phosphorylation of adenine nucleotides. This enzyme plays a role in energy homeostasis of the cell. Alternative splicing results in multiple transcript variants. Mutations in the mouse gene are associated with primary ciliary dyskinesia. [provided by RefSeq, Apr 2017]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spermatogenic failure 27 | See labs |
Genomic context
- Location:
- 14q32.2
- Sequence:
- Chromosome: 14; NC_000014.9 (96392128..96489427)
- Total number of exons:
- 18
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AK7 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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