gene

MFSD8

Entity Detail — Knowledge Graph Node

Understanding Entity Pages

This page aggregates everything SciDEX knows about MFSD8: 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.

12Connections
0Hypotheses
0Analyses
5Outgoing
7Incoming

Summary

Gene associated with neuronal ceroid lipofuscinosis type 7 (CLN7), involved in lysosomal transport

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🧬 Gene Info
Gene SymbolMFSD8
Full NameMajor Facilitator Superfamily Domain Containing 8
Chromosome4q28.2
FunctionThe MFSD8 gene encodes a protein that is expressed in multiple brain regions including Brain, Retina, Testis.
Primary ExpressionBrain, Retina, Testis
Molecular Weight58 kDa
Amino Acids518 aa
UniProt IDQ8NHC8
NCBI Gene ID256471
Ensembl IDENSG00000164073
OMIM614964
GeneCardsMFSD8
Human Protein AtlasMFSD8
Associated DiseasesPeripheral Neuropathy
KG Connections12 knowledge graph edges
DatabasesGeneCardsHPASTRING
🔮 Predicted Structure: MFSD8 — AlphaFold Q8NHC8 Click to expand

AI-predicted structure from AlphaFold | Powered by Mol*

Wiki Pages (13)

Knowledge base pages for this entity

Canonical Page

MFSD8 — Major Facilitator Superfamily Domain Containing 8

gene · 857 words

Neuronal Ceroid Lipofuscinosis (NCL)

disease · 4122 words

CLN7 — Ceroid Lipofuscinosis, Neuronal 7 (MFSD8)

gene · 2732 words

Novel Therapeutic Modalities Synthesis

mechanism · 2284 words

CLN1 (PPT1) — Palmitoyl-Protein Thioesterase 1

gene · 2283 words

TMEM175 Lysosomal Overflow Valve in Parkinson's Disease

mechanism · 1994 words

Pathway Diagram

flowchart TD
    N0["MFSD8"]
    N1["CCNF"]
    N1 -->|"implicated in"| N0
    N2["CTSF"]
    N2 -->|"implicated in"| N0
    N3["DNAJC7"]
    N3 -->|"implicated in"| N0
    N4["GLT8D1"]
    N4 -->|"implicated in"| N0
    N5["KIF5A"]
    N5 -->|"implicated in"| N0
    N6["GDAP1"]
    N6 -->|"associated with"| N0
    N7["AFG3L2"]
    N7 -->|"associated with"| N0
    N8["Peripheral Neuropathy"]
    N0 -->|"causes"| N8
    N9["NEK1"]
    N0 -->|"implicated in"| N9
    N10["TBK1"]
    N0 -->|"implicated in"| N10
    N11["TBP"]
    N0 -->|"implicated in"| N11
    N12["SETX"]
    N0 -->|"associated with"| N12
    N13["neurodegeneration"]
    N0 -->|"implicated in"| N13

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    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
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    classDef cell_type fill:#2a1a2a,stroke:#ab47bc,color:#e0e0e0
    classDef phenotype fill:#2a2a1a,stroke:#ffa726,color:#e0e0e0
    classDef process fill:#1a2a2a,stroke:#66bb6a,color:#e0e0e0
    classDef biological_process fill:#1a2a2a,stroke:#66bb6a,color:#e0e0e0
    classDef concept fill:#1a1a2a,stroke:#7986cb,color:#e0e0e0
    classDef entity fill:#1a2a3a,stroke:#4fc3f7,color:#e0e0e0
    classDef therapeutic fill:#1a2a2a,stroke:#26c6da,color:#e0e0e0
    classDef index fill:#1a1a2a,stroke:#7986cb,color:#e0e0e0
    class N0 gene
    class N1 gene
    class N2 gene
    class N3 gene
    class N4 gene
    class N5 gene
    class N6 gene
    class N7 gene
    class N8 disease
    class N9 gene
    class N10 gene
    class N11 gene
    class N12 gene

Outgoing (5)

TargetRelationTypeStr
Peripheral Neuropathycausesdisease0.85
NEK1implicated_ingene0.60
TBK1implicated_ingene0.60
TBPimplicated_ingene0.60
SETXassociated_withgene0.60

Incoming (7)

SourceRelationTypeStr
CCNFimplicated_ingene0.60
CTSFimplicated_ingene0.60
DNAJC7implicated_ingene0.60
GLT8D1implicated_ingene0.60
KIF5Aimplicated_ingene0.60

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