ERCC6

ERCC6 is a gene that provides instructions for making a protein that is involved in DNA repair and transcription. This gene is part of a group of genes known as the Cockayne syndrome (CS) group B (CSB) genes. Mutations in the ERCC6 gene have been associated with certain forms of Cockayne syndrome, a rare disorder characterized by growth failure, impaired development of the nervous system, abnormal sensitivity to sunlight (photosensitivity), and premature aging.

Function

The ERCC6 protein is involved in a process called nucleotide excision repair, which is a mechanism to repair damage to DNA. DNA can be damaged by many factors including ultraviolet (UV) light and certain chemicals. If not repaired, such damage can lead to mutations, which can result in diseases such as cancer. The ERCC6 protein is also involved in transcription, the first step in protein production, where it helps regulate the activity of certain genes.

Clinical significance

Mutations in the ERCC6 gene have been associated with Cockayne syndrome type II, a severe form of the disorder that begins in early infancy. These mutations prevent the production of any functional ERCC6 protein, which impairs DNA repair and transcription. This leads to cell death, particularly in the nervous system, which contributes to the severe neurological problems and other features of this disorder.

See also

• Cockayne syndrome
• DNA repair
• Transcription (genetics)

References

<references />

External links

• ERCC6 at Genetics Home Reference
• ERCC6 at NCBI