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FLASH GENE
Symbol ATXN8 contributors: mct - updated : 15-01-2021
HGNC name ataxin 8
HGNC id 32925
Corresponding disease
SCA8 spinocerebellar ataxia 8
Location 13q21      Physical location : -
Synonym name protein 1C2
DNA
TYPE functioning gene
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
HOMOLOGY
Homologene
FAMILY
CATEGORY unknown/unspecified
SUBCELLULAR LOCALIZATION     intracellular
intracellular,nucleus
text present in SCA8-specific 1C2-positive intranuclear inclusions
basic FUNCTION unknown
CELLULAR PROCESS cell life, cell death/apoptosis
PHYSIOLOGICAL PROCESS
PATHWAY
metabolism
signaling
a component
INTERACTION
DNA
RNA
small molecule
protein
cell & other
REGULATION
ASSOCIATED DISORDERS
corresponding disease(s) SCA8
Susceptibility
  • to Parkinson disease (PD)
  • Variant & Polymorphism other
  • ATXN8 -62 G/A polymorphism plays a role in Taiwanese PD susceptibility
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS