gene 2,089 words KG: ATXN5 2026-03-27
kind:genesection:genesstate:published
Contents

ATXN5 - Ataxin-5

🧬 Gene Info
Gene SymbolATXN5
Full NameAtaxin-5
Chromosome14q32.1
Functionencodes a protein of 828 amino acids that is the pathogenic driver of Spinocerebellar Ataxia type 5 (SCA5), an autosomal dominant neurodegenerative disorder characterized by pure cerebellar ataxia.
Primary Expressionvarious brain regions:
Amino Acids828 aa
Ensembl IDENSG00000145833
GeneCardsATXN5
Human Protein AtlasATXN5
Nuclear receptor coactivatorInteracts with nuclear receptors and coactivators
Gene expression controlRegulates neuronal gene expression programs
Chromatin remodelingMay influence chromatin structure
Proteasome interactionsAssociates with the ubiquitin-proteasome system
Autophagy regulationContributes to cellular clearance pathways
Protein homeostasisMaintains neuronal protein equilibrium
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph