2jnj: Difference between revisions
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{{STRUCTURE_2jnj| PDB=2jnj | SCENE= }} | {{STRUCTURE_2jnj| PDB=2jnj | SCENE= }} | ||
===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. | |||
==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.]] | ||
