Svensk definition
Ett ataxin som associeras med överlevnaden av neuroner i lillhjärnan. Utvidgning av ATTCT mikrosatellitupprepningar i ATXN10 kodningsregion associeras med spinocerebellära ataxi 10.
Ataxin-3
Ataxin-3
Engelsk definition
A deubiquitinating enzyme of the ATAXINS family. It functions in protein homeostasis, GENETIC TRANSCRIPTION; CYTOSKELETON regulation, and MYOGENESIS. CAG TRINUCLEOTIDE REPEAT EXPANSION in the Ataxin-3 gene coding region is associated with spinocerebellar ataxia-3 (MACHADO-JOSEPH DISEASE).
Svenska synonymer
Ataxin-3 protein — Spinocerebellär ataxi typ 3 protein — SCA3 protein
Engelska synonymer
Ataxin 3 — SCA3 Protein — Ataxin-3 Protein — Ataxin 3 Protein — Machado-Joseph Disease Protein — Machado Joseph Disease Protein — Spinocerebellar Ataxia 3 Protein — ATXN3 Protein