gene 1,880 words KG: SPG21 2026-03-27
kind:genesection:genesstate:published
Contents

SPG21 Gene

🧬 Gene Info
Gene SymbolSPG21
Full NameSpastic Paraplegia 21 (Maspardin)
AliasesSPG21/Mast syndrome
Chromosome15q22.31
Protein FamilyAlpha/beta hydrolase fold family
Protein TypeHydrolase
Functionis a gene that encodes a crucial protein involved in endosomal trafficking, autophagy, and synaptic vesicle dynamics.
Molecular Weight35 kDa
Amino Acids311 aa
Exons11
PathwaysMtor
UniProt ID[Q9BRK0](https://www.uniprot.org/uniprot/Q9BRK0)
Ensembl IDENSG00000046753
GeneCardsSPG21
Human Protein AtlasSPG21
Associated Diseasesneurodegeneration
InteractionsFYCO1, TFEB, RAB7A, MTORC1, MTOR, ENDOSOMES
KG Connections15 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

Knowledge Graph