gene 952 words KG: SPG20 2026-03-24
kind:genesection:genesstate:published
Contents

SPG20 Gene

🧬 Gene Info
Gene SymbolSPG20
Full NameSpartin
Chromosome13q13.3
Functionis a gene encoding a protein involved in intracellular trafficking, mitochondrial function, and endosomal sorting.
Amino Acids754 aa
PathwaysLysosomal Membrane Permeabilization
UniProt IDQ9GZI6
NCBI Gene ID23111
Ensembl IDENSG00000133104
OMIM275900
GeneCardsSPG20
Human Protein AtlasSPG20
InheritanceAutosomal recessive
Mutation1117delA (frameshift), Y169 (nonsense)
OnsetEarly childhood
Associated DiseasesNeurodegeneration
InteractionsLYSOSOME
KG Connections16 knowledge graph edges
DatabasesGeneCardsHPASTRING

Knowledge Graph