gene 1,880 words KG: SPG21
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
InteractionsAND, ENDOSOMES, FYCO1, MICROTUBULES, MTOR, MTORC1
KG Connections15 knowledge graph edges
DatabasesGeneCardsNCBI GeneHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Related Hypotheses (7)

Extracellular Vesicle Biogenesis Modulation
Score: 0.58
APOE-Dependent Autophagy Restoration
Score: 0.88
CYP46A1 Overexpression Gene Therapy
Score: 0.73
Autophagosome Maturation Checkpoint Control
Score: 0.71
Astrocytic Lipoxin A4 Pathway Restoration via ALOX15 Gene Th
Score: 0.69
Lysosomal Positioning Dynamics Modulation
Score: 0.69
Mitochondrial-Lysosomal Contact Site Engineering
Score: 0.67

Related Analyses (4)

Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Neuroinflammation resolution mechanisms and pro-resolving me
neurodegeneration · archived
Lipid raft composition changes in synaptic neurodegeneration
neurodegeneration · completed
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

See Also (7)

Neurodegeneration
disease · KG edge: implicated_in
TFEB (Redirect)
redirect · KG edge: activates
mTOR Signaling Dysregulation in Progressive Supranuclea
event · KG edge: interacts_with
FYCO1 — FYVE and Coiled-Coil Domain Containing 1
gene · KG edge: interacts_with
MTOR Gene
gene · KG edge: interacts_with

Knowledge Graph (12 edges)

RAB7 regulates SPG21
MTOR interacts_with SPG21
SPG21 interacts_with FYCO1
SPG21 regulates TFEB
TFEB activates SPG21
RAB7A activates SPG21
SPG21 activates TFEB
SPG21 activates RAB7A
ENDOSOMES interacts_with SPG21
MICROTUBULES interacts_with SPG21

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