About Nudix Type Motif 1 / NUDT1:
NUDT1 is a gene, which is also known as Nudix Hydrolase 1 and Nudix Type Motif 1. This gene is classified as a protein coding gene.
The NUDT1 gene has been mapped to chromosome 7p22. Additional variants have been identified, some of which are capable of encoding specific isoforms. The full picture, in terms of the structure and length of these variations, has not been confirmed, although researchers have described a single nucleotide polymorphism that produces a longer isoform.
Nudix Type Motif 1 Function
The main function of the protein encoded by the NUDT1 gene is to hydrolyze oxidised purine nucleoside triphosphates, including 8-oxo--dGTP, 8-oxo-dATP and 2-hydroxy-dATP, to create monophosphates. The encoded protein is most commonly found in the cytoplasm of the cell, with a small amount located within the mitochondria. This indicates that the protein plays a role in sanitising oxidised nucleotide pools in mitochondrial and nuclear genomes. The action of the protein encoded by gene NUDT1 prevents misincorporation of oxidised purine nucleoside triphosphates into the DNA and RNA, which could result in mutations linked to elevated risks of cancer and degenerative neurological conditions.
Mutations can be unpredictable, and the outcome is not always clear cut. What is certain is that oxygen radicals can play a key role in increasing the risk of mutations and the growth of tumours. By facilitating the hydrolysis process, NUDT1 plays a vital role in prohibiting the misincorporation of oxidised purine nucleoside triphosphates, preventing the occurrence of transversion mutations including A:T, C:G, G:C and T:A.
Studies also suggest that the NUDT1 gene is associated with diseases, including Attenuated Familial Adenomatous Polyposis and Gastric Diffuse Adenocarcinoma. Attenuated familial adenomatous polyposis is a rare, inherited predisposition to bowel cancer, which is characterised by the presence of adenomatous polyps found in the colon and rectum. Gastric diffuse adenocarcinoma is sometimes known as diffuse gastric cancer. Gastric cancers are among the most common forms of cancer diagnosed in humans.
While the NUDT1 gene is linked to the prevention of DNA damage, cell dysfunction, and the death of cells, it also plays a role in the metabolism of nucleotides. Nucleotides are compounds, which comprise a nucleoside that is connected to a phosphate group. Nucleotides are a fundamental building block of structural molecules of nucleic acids, including DNA.