Engelsk definition

A component of the STAGA transcription coactivator-HAT complex that functions in Cone Rod Homeobox Protein (CRX)-dependent gene activation. It also stabilizes MICROTUBULES. CAG repeat expansion in the ATXN-7 coding region is associated with the development of SPINOCEREBELLAR ATAXIA 7.

Svenska synonymer

Atxn-7 protein Spinocerebellär ataxi typ 7 protein SCA 7 protein

Engelska synonymer

Ataxin 7 SCA7 Protein Protein, SCA7 Atxn-7 Protein Atxn 7 Protein Protein, Atxn-7 Spinocerebellar Ataxia 7 Protein ATXN7 Protein Protein, ATXN7