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FLASH GENE
Symbol POLD1 contributors: mct - updated : 23-11-2013
HGNC name polymerase (DNA directed), delta 1, catalytic subunit 125kDa
HGNC id 9175
ASSOCIATED DISORDERS
corresponding disease(s) MDPL
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   deletion    
in sporadic colorectal cancer
constitutional     --low  
mRNA expression of DNA POLD1 decreased substantially with age
Susceptibility to colorectal adenomas and carcinomas
Variant & Polymorphism other
  • POLD1 p.Ser478Asn, have high penetrance, and is associated with colorectal adenomas and carcinomas and endometrial cancer predisposition
  • Candidate gene
    Marker
  • DNA POLD1 has great potential for a new biomarker of aging
  • Therapy target
    ANIMAL & CELL MODELS