POLD1 gene

DNA polymerase delta 1, catalytic subunit

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Mar 2012]

From UniProt:

Possesses two enzymatic activities: DNA synthesis (polymerase) and an exonucleolytic activity that degrades single stranded DNA in the 3'- to 5'-direction. Required with its accessory proteins (proliferating cell nuclear antigen (PCNA) and replication factor C (RFC) or activator 1) for leading strand synthesis. Also involved in completing Okazaki fragments initiated by the DNA polymerase alpha/primase complex.

From NCBI Gene:

  • Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome
  • Colorectal cancer 10

From UniProt:

Colorectal cancer 10 (CRCS10): A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. [MIM:612591]

Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL): An autosomal dominant systemic disorder characterized by prominent loss of subcutaneous fat, metabolic abnormalities including insulin resistance and diabetes mellitus, sclerodermatous skin, and a facial appearance characterized by mandibular hypoplasia. Sensorineural deafness occurs late in the first or second decades of life. [MIM:615381]

Cytogenetic Location: 19q13.3, which is the long (q) arm of chromosome 19 at position 13.3

Molecular Location: base pairs 50,384,291 to 50,418,018 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.3, which is the long (q) arm of chromosome 19 at position 13.3
  • CDC2
  • CRCS10
  • MDPL
  • POLD