XPD Helicase (3CRV)
From Proteopedia
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-NER removes DNA damaged by ultraviolet light | -NER removes DNA damaged by ultraviolet light | ||
== Disease == | == Disease == | ||
| - | Xeroderma Pigmentosum(XP) | + | Mutations in XPD Helicase are associated with three distinct diseases: Cockayne Syndrome (CS), Xeroderma Pigmentosum (XP), and trichothiodystrophy (TTD). The common symptom between these diseases is sensitivity to UV light because of defects in the repair system that fixes mutations caused by UV radiation. |
| - | + | CS: | |
| - | + | Characterized by short stature, signs of premature aging, failure to gain weight, impaired development of the nervous system, and photosensitivity. | |
| - | + | XP: | |
| - | + | Characterized by extreme sensitivity to sunlight and a higher risk of skin cancer. | |
| - | + | TTD: | |
| + | Characterized by sparse and brittle hair, pregnancy-induced high blood pressure, intellectual disabilities, a higher risk of recurrent respiratory infections, and photosensitivity. | ||
== Relevance == | == Relevance == | ||
Revision as of 17:40, 10 April 2016
Contents |
XPD Helicase
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Function
-Required for nucleotide excision repair (NER) as part as transcription factor/repair complex TFIIH
-Critical for helicase activity and stability and the TFIIH complex
-DNA helicase is essential during DNA replication because it unwinds the two strands at places called origins, where synthesis is initiated. This allows both strands of DNA to be replicated. XPD helicase activity is essential for NER but dispensable for transcription
-NER removes DNA damaged by ultraviolet light
Disease
Mutations in XPD Helicase are associated with three distinct diseases: Cockayne Syndrome (CS), Xeroderma Pigmentosum (XP), and trichothiodystrophy (TTD). The common symptom between these diseases is sensitivity to UV light because of defects in the repair system that fixes mutations caused by UV radiation. CS: Characterized by short stature, signs of premature aging, failure to gain weight, impaired development of the nervous system, and photosensitivity. XP: Characterized by extreme sensitivity to sunlight and a higher risk of skin cancer. TTD: Characterized by sparse and brittle hair, pregnancy-induced high blood pressure, intellectual disabilities, a higher risk of recurrent respiratory infections, and photosensitivity.
Relevance
Structural highlights
This is a sample scene created with SAT to by Group, and another to make of the protein. You can make your own scenes on SAT starting from scratch or loading and editing one of these sample scenes.
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References
1. Fan, L., Fuss, J. O., Cheng, Q. J., Arvai, A. S., Hammel, M., Roberts, V. A., Cooper, P. K., and Tainer, J. A. (2008) XPD helicase structures and activities: Insights into the cancer and aging phenotypes from XPD mutations.
2. Cleaver, J. E., Lam, E. T., and Revet, I. (2009) Disorders of nucleotide excision repair: The genetic and molecular basis of heterogeneity. Nat. Rev. Genet. 10, 756-768.
3.Nance, M. A., and Berry, S. A. (1992) Cockayne syndrome: Review of 140 cases. Am. J. Med. Genet. 42, 68-84.
Proteopedia Page Contributors and Editors (what is this?)
Matt Kohler, Bashir Noor, Chih Hao Huang, Michal Harel, Mark Heslin, Shane Devlin
