ataxin-8 (protein 1C2)

Function

• gene (SCA8 gene) also encodes small inhibitory RNA that regulates brain-specific actin-binding protein (putative)

Compartment

• present in SCA8-specific 1C2-positive intranuclear inclusions

Expression

• specifically found in brains from SCA8 patients (at protein level)
• it is unknown whether this protein exists in individuals without spinocerebellar ataxia type 8

Pathology

• defects in ATXN8 are a cause of spinocerebellar ataxia 8

Polymorphism

• length of the poly-Gln expansion is variable & may contain one or more interruptions that introduce Arg into the polyglutamine repeat tract

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/608768
• UniProt: http://www.uniprot.org/uniprot/Q156A1.html