POLE gene

DNA polymerase epsilon, catalytic subunit

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

From NCBI Gene:

This gene encodes the catalytic subunit of DNA polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

From UniProt:

Participates in DNA repair and in chromosomal DNA replication.

From NCBI Gene:

  • Colorectal cancer, susceptibility to, 12
  • Facial dysmorphism, immunodeficiency, livedo, and short stature

From UniProt:

Colorectal cancer 12 (CRCS12): 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. CRCS12 is characterized by a high-penetrance predisposition to the development of colorectal adenomas and carcinomas, with a variable tendency to develop multiple and large tumors. Onset is usually before age 40 years. The histologic features of the tumors are unremarkable. [MIM:615083]

Facial dysmorphism, immunodeficiency, livedo, and short stature (FILS): A syndrome characterized by mild facial dysmorphism, mainly malar hypoplasia, livedo on the skin since birth, and immunodeficiency resulting in recurrent infections. Growth impairment is observed during early childhood and results in variable short stature in adulthood. [MIM:615139]

Cytogenetic Location: 12q24.3, which is the long (q) arm of chromosome 12 at position 24.3

Molecular Location: base pairs 132,623,762 to 132,687,524 on chromosome 12 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 12q24.3, which is the long (q) arm of chromosome 12 at position 24.3
  • CRCS12
  • FILS
  • POLE1