gene

SPAST

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about SPAST: its mechanistic relationships (Knowledge Graph edges), hypotheses targeting it, analyses mentioning it, and supporting scientific papers. The interactive graph below shows its immediate neighbors. All content is AI-synthesized from peer-reviewed literature.

27Connections
0Hypotheses
0Analyses
18Outgoing
9Incoming

Summary

SPAST

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🧬 Gene Info
Gene SymbolSPAST
Protein TypeEnzyme
FunctionSpastin is a microtubule-severing protein that plays essential roles in
Primary Expressionthe nervous system:
GeneCardsSPAST
Human Protein AtlasSPAST
AspectDetails
InheritanceAutosomal dominant
Prevalence~40% of all autosomal dominant HSP cases
MutationsOver 200 pathogenic variants identified
MechanismLoss of function - haploinsufficiency
DiseaseRelationship
Parkinson's DiseaseAltered spastin expression in some PD models
Alzheimer's DiseasePotential role in microtubule dynamics in AD
Charcot-Marie-Tooth DiseaseSome overlap with hereditary neuropathies
Associated DiseasesALS, Spastic Paraplegia Type 4, neurodegeneration
InteractionsUbiquitin, HDAC6
KG Connections27 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

Wiki Pages (21)

Knowledge base pages for this entity

Canonical Page

SPAST

gene · 763 words

FA2H Gene

gene · 3327 words

EPG5 Gene - Ectopic P-Granules 5 Autophagy Tutor

gene · 3160 words

MFSD1

gene · 2978 words

hereditary-spastic-paraplegia

disease · 2618 words

Betz Cells in Hereditary Spastic Paraplegia

cell · 2327 words

Pathway Diagram

flowchart TD
    N0["SPAST"]
    N1["Als"]
    N0 -->|"associated with"| N1
    N2["ALS"]
    N0 -->|"associated with"| N2
    N3["COL4A1"]
    N0 -->|"associated with"| N3
    N4["SATB2"]
    N0 -->|"associated with"| N4
    N5["ATL1"]
    N0 -->|"associated with"| N5
    N6["PDHX"]
    N0 -->|"associated with"| N6
    N7["SLC16A2"]
    N0 -->|"associated with"| N7
    N8["GNAO1"]
    N0 -->|"associated with"| N8
    N9["AND"]
    N0 -->|"associated with"| N9
    N10["Rb"]
    N0 -->|"associated with"| N10
    N11["GENES"]
    N11 -->|"associated with"| N0
    N3 -->|"associated with"| N0
    N6 -->|"associated with"| N0
    N8 -->|"associated with"| N0

    classDef gene fill:#1a3a2a,stroke:#4caf50,color:#e0e0e0
    classDef protein fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
    classDef disease fill:#3a1a1a,stroke:#ef5350,color:#e0e0e0
    classDef pathway fill:#2a1a3a,stroke:#ce93d8,color:#e0e0e0
    classDef mechanism fill:#2a2a1a,stroke:#ffd54f,color:#e0e0e0
    class N1 disease
    class N2 disease
    class N3 gene
    class N4 gene
    class N5 gene
    class N6 gene
    class N7 gene
    class N8 gene
    class N9 gene
    class N10 protein
    class N11 gene

Outgoing (18)

TargetRelationTypeStr
Spastic Paraplegia Type 4causesdisease0.95
microtubule severingmediatesprocess0.90
ubiquitin-proteasome systeminvolved_inpathway0.85
Ubiquitininteracts_withprotein0.85
tubulin acetylationregulatesphenotype0.80

Incoming (9)

SourceRelationTypeStr
COL4A1associated_withgene0.60
PDHXassociated_withgene0.60
GNAO1associated_withgene0.60
SATB2associated_withgene0.60
SLC16A2associated_withgene0.60

Targeting Hypotheses (0)

Hypotheses where this entity is a therapeutic target

HypothesisScoreDiseaseAnalysis
No targeting hypotheses

Mentioning Analyses (0)

Scientific analyses that reference this entity

No analyses mention this entity

Related Papers (0)

Scientific publications cited in analyses involving this entity

Title & PMIDAuthorsJournalYearCitations
No papers found