ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Machado-Joseph Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1356872624
rs1356872624
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0024408
Disease:
Machado-Joseph Disease 		0.010 GeneticVariation BEFREE In Machado-Joseph disease (MJD) gene, there is a C/G polymorphism immediately after the CAG repeat; the expanded CAG repeat tract is exclusively followed by C, whereas about half of wild-type alleles are followed by G. Using this C/G polymorphism, we have engineered the small interfering RNA (siRNA) which decreased the expression of mutant ataxin-3, Q79C, by 96.0%, whereas there was minimal reduction on that of the wild type, Q22G (5.9%). 15236410 2004