Nucleotide excision repair is a multi-step pathway that removes a wide range of different damages that distort normal base pairing.
These features may include sensorineural deafness, retinal degeneration, white matter hypomethylation, central nervous system calcification, reduced stature, and cachexia (loss of subcutaneous fat tissue).
The XPD protein produced by the ERCC2 gene plays an important role in the process of transcription and cell death and is also known for nucleotide excision repair pathway.
Various literature studies have reviewed the correlation between polymorphisms in ERCC2 and reduced DNA repair efficiency and their influence on the development of the cancers as well as interaction with environmental exposures.
The second most common cause of xeroderma pigmentosum in the United States are due to mutations in ERCC2 gene, more than twenty-five of which have been observed in people with this disease.
Thus, the people suffering from xeroderma pigmentosum are highly sensitive to the ultraviolet rays from the sunlight due to the DNA repair problems.
So, when ultraviolet rays harm the genes, the cell grows and divides in an uncontrolled fashion and is highly prone to be cancerous.
Xeroderma pigmentosum caused by ERCC2 mutations is associated with the numerable developmental neurological malfunctioning which includes; hearing loss, poor coordination, mobility issues, lack of intellectual abilities, difficulties in talking, walking, swallowing the food and seizures.