gene 1,578 words KG: ATXN1 2026-03-24
kind:genesection:genesstate:published
Contents

ATXN1 — Ataxin 1

🧬 Gene Info
Gene SymbolATXN1
Full NameAtaxin 1
Chromosome6p22.3
FunctionCapicua (CIC) repressor complex — Ataxin-1 binds to the transcriptional repressor CIC, regulating downstream target genes
Primary ExpressionPurkinje cells, Cerebellum, Brainstem
Molecular Weight87 kDa
Amino Acids815 aa
PathwaysNotch signaling
UniProt IDP54253
NCBI Gene ID6310
Ensembl IDENSG00000124788
OMIM601556
GeneCardsATXN1
Human Protein AtlasATXN1
Associated DiseasesAtaxia, Huntington's disease, neurodegeneration
InteractionsBDNF, CIC, NEURON, PKA
KG Connections28 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph