gene 1,319 words KG: ATXN6 2026-03-26
kind:genesection:genesstate:published
Contents

ATXN6 - Ataxin-6

🧬 Gene Info
Gene SymbolATXN6
Full NameAtaxin-6
Chromosome12p13.31
Functionencodes a protein of 818 amino acids that is central to the pathogenesis of Spinocerebellar Ataxia type 6 (SCA6), one of the most common autosomal dominant cerebellar ataxias worldwide.
Amino Acids818 aa
Ensembl IDENSG00000169189
GeneCardsATXN6
Human Protein AtlasATXN6
Calcium influxMediates depolarization-triggered calcium entry
Fast synaptic transmissionEssential for reliable synaptic signaling
Gene expressionCalcium influx triggers downstream signaling cascades
Purkinje cell outputRegulate the sole output of the cerebellar cortex
Synaptic plasticityMediate long-term depression (LTD) at parallel fiber-Purkinje cell synapses
Motor learningEssential for motor coordination and adaptation
CerebellumHighest expression in Purkinje cells (the primary cell type affected in SCA6)
Associated Diseasesneurodegeneration
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph