XPB
XPB
XPB (pronounced: eks-pee-bee), also known as ERCC3 (pronounced: er-see-see-three) and RAD25 (pronounced: rad-twenty-five), is a gene that encodes a DNA-dependent ATPase and 3'-5' DNA helicase involved in DNA repair and transcription.
Etymology
The term XPB is an abbreviation for Xeroderma Pigmentosum, Complementation Group B. Xeroderma Pigmentosum is a rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight. The term 'Complementation Group B' refers to the specific group of genes that, when mutated, cause this disorder.
Function
The XPB gene is part of the TFIIH transcription factor complex, which is involved in both nucleotide excision repair (NER) and transcription. Mutations in this gene can lead to three different disorders: the cancer-prone syndrome xeroderma pigmentosum (XP), XP combined with Cockayne syndrome (XP/CS), and trichothiodystrophy (TTD).
Related Terms
- Xeroderma Pigmentosum: A rare genetic disorder characterized by extreme sensitivity to ultraviolet (UV) rays from sunlight.
- Cockayne Syndrome: A rare disorder characterized by short stature and an appearance of premature aging.
- Trichothiodystrophy: A heterogeneous group of rare autosomal recessive disorders that affect multiple organs and systems.
- TFIIH: A transcription factor that is involved in both nucleotide excision repair (NER) and transcription.
- DNA repair: The collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome.
- Transcription: The first step of gene expression, in which a particular segment of DNA is copied into RNA by the enzyme RNA polymerase.
External links
- Medical encyclopedia article on XPB
- Wikipedia's article - XPB
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