IndraLab

Statements


ATXN3 activates CASP3. 3 / 3
| 3

reach
"Ataxin gene variants in ATXN1, ATXN2, ATXN3, and ATXN7 cause SCA1, SCA2, SCA3, and SCA7, respectively."

reach
"XREF_BIBR SCA1, SCA2, Machado-Joseph or SCA3, SCA6, SCA7, SCA12, SCA17, and dentatorubral-pallidoluysian atrophy (DRPLA) are caused by (CAG) n repeat expansions in the ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, PPP2R2B, TBP, and ATN1 genes, respectively, and all lead to the expansion of a polyglutamine tract in the corresponding proteins."

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"At least 6 autosomal dominant forms of spinocerebellar ataxia (SCA1, 2, 3, 6, 7, and 17) are caused by CAG repeat expansions, the most common of these being SCA3, or Machado-Joseph disease (MJD)."