ATXN7L3B
Contents
Annotation
Name
ATXN7L3B
Alias
NA
Disease
Disease: spinocerebellar ataxia (PMID:25306109)
Dysfunction type: NA
Description: STAGA is required for the transcription initiation of miR-124, which in turn mediates the post-transcriptional cross-talk between lnc-SCA7, a conserved long noncoding RNA,and ATXN7 mRNA. In SCA7, mutations in ATXN7 disrupt these regulatory interactions and result in a neuron-specific increase in ATXN7 expression. Strikingly, in mice this increase is most prominent in the SCA7 disease-relevant tissues, namely the retina and cerebellum.
Function
Function Mechanism: NA (PMID:25306109)
Biological Process: pathogenic process
Description: NA