The XPD helicase plays a significant role in the process of nucleotide repair (NER). The process of DNA unwinding enables the separation of DNA into single strands for easy copying and replication. Point mutations in the XPD helicase cause the Cockayne Syndrome (CS). The main signs of CS include premature aging and short stature. The mapping of mutations occurs in domains that adversely affect the integrity of the TFIIH complex. Other features evident in CS patients include poor weight gain and growth, an abnormally small head, and an impaired nervous system. The successful repair of damaged DNA depends on the correctness of the instructions from the CBS and CSA genes. The failure to repair damaged DNA in CS patients leads to increased DNA abnormalities and the malfunctioning and death of cells, which causes different CS features.
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