ATXN3 ataxin 3
Gene ID: 4287, updated on 21-Mar-2023Gene type: protein coding
Also known as: AT3; JOS; MJD; ATX3; MJD1; SCA3
- See all available tests in GTR for this gene
- Go to complete Gene record for ATXN3
- Go to Variation Viewer for ATXN3 variants
Summary
Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 12-44 to 52-86 is one cause of Machado-Joseph disease. There is a negative correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jul 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Azorean disease | See labs |
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Genome wide study of maternal and parent-of-origin effects on the etiology of orofacial clefts. GeneReviews: Not available | |
| Identification of ten loci associated with height highlights new biological pathways in human growth. GeneReviews: Not available | |
| Many sequence variants affecting diversity of adult human height. GeneReviews: Not available |
Genomic context
- Location:
- 14q32.12
- Sequence:
- Chromosome: 14; NC_000014.9 (92058552..92106582, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | GeneView ReportGo to Variation Viewer for ATXN3 variants |
| 1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- ATXN3 database
- BioSystemsBioSystems
- 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
- SNP: GeneViewSNPs linked from GeneView
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