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 Connections24 knowledge graph edges
DatabasesGeneCardsUniProtNCBI GeneHPASTRING

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