APTX aprataxin
Gene ID: 54840, updated on 17-Jun-2024Gene type: protein coding
Also known as: AOA; AOA1; AXA1; EAOH; EOAHA; FHA-HIT
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- Go to complete Gene record for APTX
- Go to Variation Viewer for APTX variants
Summary
This gene encodes a member of the histidine triad (HIT) superfamily. The encoded protein may play a role in single-stranded DNA repair through its nucleotide-binding activity and its diadenosine polyphosphate hydrolase activity. Mutations in this gene have been associated with ataxia-ocular apraxia. Alternatively spliced transcript variants have been identified for this gene.[provided by RefSeq, Aug 2010]
Associated conditions
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| Description | Tests |
|---|---|
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | not available |
Genomic context
- Location:
- 9p21.1
- Sequence:
- Chromosome: 9; NC_000009.12 (32972616..33025120, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for APTX variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- APTX database
- 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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