gene 687 words KG: ATXN8 2026-03-24
kind:genesection:genesstate:published
Contents

ATXN8 Gene

🧬 Gene Info
Gene SymbolATXN8
Full NameAtaxin-8
Chromosome13q21
FunctionNormal ataxin-8 functions are not fully understood, but research suggests
Primary Expressionthe nervous system and has complex normal functions that are disrupted by polyQ expansion
Amino Acids343 aa
Gene TypeProtein coding
UniProt IDQ9UQ72
NCBI Gene ID6315
Ensembl IDENSG00000174187
OMIM603680
GeneCardsATXN8
Human Protein AtlasATXN8
Repeat LengthEffect
17-50Normal range
Associated Diseasesneurodegeneration
DatabasesGeneCardsHPASTRING

Knowledge Graph