gene 673 words KG: ATL1 2026-03-24
kind:genesection:genesstate:published
Contents

ATL1

🧬 Gene Info
Gene SymbolATL1
FunctionAtlastin-1 is a membrane-bound GTPase with essential functions in
GeneCardsATL1
Human Protein AtlasATL1
AspectDetails
InheritanceAutosomal dominant
Prevalence~10% of autosomal dominant HSP
MutationsOver 50 pathogenic variants identified
Age of OnsetOften childhood onset (youngest among HSPs)
DiseaseRelationship
[Parkinson's Disease](/diseases/parkinsons-disease)ATL1 expression altered in some PD models
Neurodevelopmental disordersRare reports of ATL1 involvement
Charcot-Marie-Tooth diseaseSome phenotypic overlap
StrategyStatus
Gene therapyPreclinical
Associated DiseasesALS
KG Connections18 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Knowledge Graph