NTHL1 encodes a DNA glycosylase involved in base excision repair, primarily responsible for removing oxidized pyrimidines from DNA. NTHL1 mutations cause a rare autosomal recessive disorder and have been implicated in neurodegeneration.
NTHL1 (Nth-like DNA Glycosylase 1), also known as NTH1 (Endonuclease III), is a DNA repair enzyme that recognizes and removes damaged bases from DNA. It plays a crucial role in maintaining genomic integrity, particularly in the brain where oxidative stress is high.
| Property | Value |
|---|---|
| Gene Symbol | NTHL1 |
| Full Name | Nth-like DNA Glycosylase 1 |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 4914 |
| OMIM ID | 616678 |
| Ensembl ID | ENSG00000165030 |
| UniProt ID | Q9UBC2 |
| Encoded Protein | NTHL1 protein |
| Associated Diseases | Ataxia-telangiectasia-like disease, colorectal cancer, neurodegeneration |
NTHL1 is a DNA glycosylase that recognizes and removes oxidized pyrimidines from DNA.
Key normal physiological functions include:
The study of Nthl1 Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.