ATXN7L3B

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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