IndraLab

Statements

CACNA1A activates SCA6. 6 / 6
| 6
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."
24780882
reach
"A CAG expansion in CACNA1A causes SCA6."
19345087
reach
"SCA6 is caused by an expanded CAG repeat in the CACNA1A gene, which results in an expanded polyglutamine (polyQ) tract."
27412786
reach
"SCA6 is caused by a CAG-repeat expansion in the gene CACNA1A encoding the alpha1A-subunit of voltage dependent P/Q-type calcium channel, causing a polyglutamine (poly-Q) expansion."
26730403
reach
"SCA6 is allelic with EA2 and FHM type 1 and is caused by expansions of the CAG repeat sequence in the 3 ' end of CACNA1A."
26558925
reach
"Abnormal trinucleotide repeat expansion in the CACNA1A gene causes spinocerebellar ataxia type 6 (SCA6, OMIM # 183086), which normally presents in adulthood with progressive gait ataxia, incoordination, tremors, dysarthria, and nystagmus (Casey & Gomez,1998)."
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