DNPH1 gene variants and their impact on DNA repair (G10591)

Target Name: DNPH1

NCBI ID: G10591

DNPH1

DNPH1 gene variants and their impact on DNA repair

2'-Deoxynucleoside 5'-Phosphate N-Hydrolase 1 (DNPH1) is a gene that encodes a protein known as N-hydrolase 1. This protein is involved in the repair of DNA damage in the cell. It is a key enzyme in the DNA damage repair pathway, which is a critical process that helps ensure the stability and integrity of the genetic material.

DNPH1 is a transcript variant of the gene encoding N-hydrolase 1. This means that there are different forms of the gene that produce different proteins. The most common form of DNPH1 is a wild-type gene, but there are also several variants that have been identified.

One of the variants of DNPH1 is the DNPH1-ASP8 variant. This variant is associated with decreased activity in the DNA damage repair pathway. This is because the DNPH1-ASP8 variant has a single amino acid change at position 242, which results in a substitution of Asp for Asn. This substitution has a neutral effect on the overall activity of the protein, but it is enough to impair its function in certain cellular contexts.

Another variant of DNPH1 is the DNPH1-ASP9 variant. This variant is associated with reduced DNA repair efficiency in the cell. This is because the DNPH1-ASP9 variant has a single amino acid change at position 242, which results in a substitution of Asp for Asn. This substitution has a neutral effect on the overall activity of the protein, but it is enough to impair its function in certain cellular contexts.

DNPH1 is a protein that is involved in a critical process in the cell. It is a key enzyme in the DNA damage repair pathway, which is a critical process that helps ensure the stability and integrity of the genetic material. The DNPH1 gene variants, including the DNPH1-ASP8 and DNPH1-ASP9 variants, have been identified and are being studied as potential drug targets or biomarkers.

In conclusion, DNPH1 is a gene that encodes a protein involved in the repair of DNA damage in the cell. The DNPH1 gene has two variants, the DNPH1-ASP8 and DNPH1-ASP9 variants. The DNPH1-ASP8 variant has a single amino acid change at position 242, which results in a substitution of Asp for Asn. This substitution has a neutral effect on the overall activity of the protein, but it is enough to impair its function in certain cellular contexts. The DNPH1-ASP9 variant is also associated with reduced DNA repair efficiency. DNPH1 is a protein that is being studied as a potential drug target or biomarker.

Protein Name: 2'-deoxynucleoside 5'-phosphate N-hydrolase 1

Functions: Catalyzes the cleavage of the N-glycosidic bond of deoxyribonucleoside 5'-monophosphates to yield deoxyribose 5-phosphate and a purine or pyrimidine base. Deoxyribonucleoside 5'-monophosphates containing purine bases are preferred to those containing pyrimidine bases

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