gene 531 words KG: MDC1
Contents

MDC1 — Mediator of DNA Damage Checkpoint 1

🧬 Gene Info
Gene SymbolMDC1
Full NameMediator of DNA Damage Checkpoint 1
FunctionMDC1 is a key mediator protein in the DNA damage response (DDR) pathway.
Ensembl IDENSG00000137336
GeneCardsMDC1
Human Protein AtlasMDC1
FHA DomainForkhead-associated domain for protein interactions
BRCT DomainsBreast cancer C-terminal domains for phospho-Ser/Thr binding
SDT RepeatsSer-Asp-Thr repeats for ATM phosphorylation sites
NBS1-Binding RegionMediates interaction with NBS1/MRE11/RAD50 complex
DNA Repair ImpairmentAD neurons show reduced DNA repair capacity
Genomic InstabilityAccumulation of DNA damage in AD brain
Therapeutic TargetEnhancing MDC1 function may protect neurons
Dopaminergic NeuronsParticularly vulnerable to DNA damage
Mitochondrial DNALinks to mitochondrial dysfunction in PD
Associated DiseasesAls, Ataxia, Infection
InteractionsATM, BRCA1, CANCER, RNF8
KG Connections23 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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🌐 Cross-references

NCBI GeneUniProtGeneCardsWikipediaHGNCEnsembl

Related Hypotheses (1)

Autophagosome Maturation Checkpoint Control
Score: 0.71

Related Analyses (2)

Autophagy-lysosome pathway convergence across neurodegenerat
neurodegeneration · archived
Circuit-level neural dynamics in neurodegeneration
neuroscience · archived

Related Experiments (2)

Macroautophagy Dysfunction in PD - Experiment Design
clinical · proposed · Score: 0.40
Microglial Aging and Immune Memory in Neurodegeneration — Tr
validation · proposed · Score: 0.40

See Also (14)

Neurodegeneration
disease · KG edge: implicated_in
DNA Damage Repair Deficiency Validation Study in Parkin
experiment · KG edge: associated_with
ATM Gene
gene · KG edge: interacts_with
ATOX1 - Copper Chaperone
gene · KG edge: upregulates
ATR Gene
gene · KG edge: associated_with

Knowledge Graph (12 edges)

BRCA1 interacts_with MDC1
RNF8 interacts_with MDC1
ATM interacts_with MDC1
NBN associated_with MDC1
TPX2 associated_with MDC1
ATM associated_with MDC1
MDC1 associated_with ATR
MDC1 associated_with MRE11
MDC1 associated_with SYN1
MDC1 associated_with CHEK1

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