Gene: ATXN3

Alternate names for this Gene: AT3|ATX3|JOS|MJD|MJD1|SCA3

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.12

Description of this Gene: ataxin 3

Type of Gene: protein-coding

rs10143310 in ATXN3 gene and Amyotrophic Lateral Sclerosis PMID 29566793 2018 Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.

rs11160037 in ATXN3 gene and Forced expiratory volume function PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.

rs10151945 in ATXN3 gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30804560 2019 New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries.