Gene: POLD1

Alternate names for this Gene: CDC2|CRCS10|MDPL|POLD

Gene Summary: This gene encodes the 125-kDa catalytic subunit of DNA polymerase delta. DNA polymerase delta possesses both polymerase and 3' to 5' exonuclease activity and plays a critical role in DNA replication and repair. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 6.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.33

Description of this Gene: DNA polymerase delta 1, catalytic subunit

Type of Gene: protein-coding

rs397514632 in POLD1 gene and COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 PMID 26206375 2015 GESPA: classifying nsSNPs to predict disease association.

PMID 25559809 2015 Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

PMID 26344056 2015 Genetic Variants That Predispose to DNA Double-Strand Breaks in Lymphocytes From a Subset of Patients With Familial Colorectal Carcinomas.

PMID 24501277 2014 New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

PMID 23447401 2013 Germline and somatic polymerase ε and δ mutations define a new class of hypermutated colorectal and endometrial cancers.

PMID 23263490 2013 Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas.

PMID 26133394 2016 POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

PMID 16699561 2006 A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae.

rs398122386 in POLD1 gene and Neoplastic Syndromes, Hereditary PMID 26350127 2015 Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies.

PMID 26172944 2015 POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome.

PMID 23770608 2013 An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy.

PMID 26133394 2016 POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance.

PMID 28306219 2017 Characterization of a novel POLD1 missense founder mutation in a Spanish population.

PMID 24501277 2014 New insights into POLE and POLD1 germline mutations in familial colorectal cancer and polyposis.

PMID 16699561 2006 A method to select for mutator DNA polymerase deltas in Saccharomyces cerevisiae.