2jnj
From Proteopedia
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{{STRUCTURE_2jnj| PDB=2jnj | SCENE= }} | {{STRUCTURE_2jnj| PDB=2jnj | SCENE= }} | ||
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===Solution structure of the p8 TFIIH subunit=== | ===Solution structure of the p8 TFIIH subunit=== | ||
| + | {{ABSTRACT_PUBMED_17350038}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN]] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:[http://omim.org/entry/601675 601675]]. TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP. | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/TF2H5_HUMAN TF2H5_HUMAN]] Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.<ref>PMID:15220921</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:017350038</ref><references group="xtra"/> | + | <ref group="xtra">PMID:017350038</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Atkinson, R A.]] | [[Category: Atkinson, R A.]] | ||
Revision as of 17:59, 24 March 2013
Contents |
Solution structure of the p8 TFIIH subunit
Template:ABSTRACT PUBMED 17350038
Disease
[TF2H5_HUMAN] Defects in GTF2H5 are a cause of trichothiodystrophy photosensitive (TTDP) [MIM:601675]. TTDP is an autosomal recessive disease characterized by sulfur-deficient brittle hair and nails, ichthyosis, mental retardation, impaired sexual development, abnormal facies and cutaneous photosensitivity correlated with a nucleotide excision repair (NER) defect. Neonates with trichothiodystrophy and ichthyosis are usually born with a collodion membrane. The severity of the ichthyosis after the membrane is shed is variable, ranging from a mild to severe lamellar ichthyotic phenotype. There are no reports of skin cancer associated with TTDP.
Function
[TF2H5_HUMAN] Component of the TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.[1]
About this Structure
2jnj is a 2 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- Vitorino M, Coin F, Zlobinskaya O, Atkinson RA, Moras D, Egly JM, Poterszman A, Kieffer B. Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy. J Mol Biol. 2007 Apr 27;368(2):473-80. Epub 2007 Feb 20. PMID:17350038 doi:10.1016/j.jmb.2007.02.020
- ↑ Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W. A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A. Nat Genet. 2004 Jul;36(7):714-9. Epub 2004 Jun 27. PMID:15220921 doi:10.1038/ng1387
