Gene Symbol | POLD1 |
Entrez Gene ID | 5424 |
Full Name | DNA polymerase delta 1, catalytic subunit |
Synonyms | CDC2,CRCS10,MDPL,POLD |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Mar 2012]. |
Disorder MIM: | |
Disorder Html: | {Colorectal cancer, susceptibility to, 10}, 612591 (3); Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3) |