ATXN3
Sign in to saveAlso known as AT3, ATX3, JOS, MJD, MJD1, SCA3, Ataxin 3
protein-coding gene in the species Homo sapiens
Gene data
ATXN3- Name
- ataxin 3
- Type
- protein-coding
- Position
- 92,044,482–92,106,625 (−)
- Aliases
- AT3, ATX3, JOS, MJD, MJD1, SCA3
- Ensembl
- ENSG00000066427
- RefSeq RNA
- NM_001024631.1, NM_001127696.2, NM_001127697.3, NM_001164774.2, NM_001164776.2
- RefSeq protein
- NP_001121168.1, NP_001121169.2, NP_001158246.1, NP_001158248.1, NP_001158249.1
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].
Gene Ontology
Biological process
microtubule cytoskeleton organizationnucleotide-excision repairubiquitin-dependent protein catabolic processprotein quality control for misfolded or incompletely synthesized proteinsprotein quality control for misfolded or incompletely synthesized proteinsprotein quality control for misfolded or incompletely synthesized proteinschemical synaptic transmissionnervous system development
Molecular function
Pathways
Protein processing in endoplasmic reticulum - Homo sapiens (human)Spinocerebellar ataxia - Homo sapiens (human)Pathways of neurodegeneration - multiple diseases - Homo sapiens (human)Generic Transcription PathwayMetabolism of proteinsDeubiquitinationJosephin domain DUBsPost-translational protein modificationRNA Polymerase II TranscriptionGene expression (Transcription)
via MyGene.info
Gene · Ensembl
ataxin 3
- Symbol
- ATXN3
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 14:92,044,482-92,106,625
- Strand
- Reverse (−)
- Assembly
- GRCh38
View on Ensembl →
via Ensembl · EMBL-EBI