Welcome! Click here to login or here to register.
 |
|||||||||||||||||||
|
|||||||||||||||||||
 |
|||||||||||||||||||
GTF2H5general transcription factor IIH, polypeptide 5 |
Known also as: TTD; TFB5; TTDA; TTD-A; TGF2H5; C6orf175; bA120J8.2;
| NCBI Gene ID: | 404672 |
| NCBI Ensembl Id: | ENSG00000185068 |
| MIM Id: (from NCBI OMIM database) | 608780 |
| Species: | Homo sapiens |
| This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq] |
Gene sequence:
| [Download sequence] |
Proteins coded by this gene:
References:
| Authors | Title | Journal |
| Coin F, Proietti De Santis L, Nardo T, Zlobinskaya O, Stefanini M, Egly JM | p8/TTD-A as a repair-specific TFIIH subunit. | Mol Cell Feb. 20, 2006 |
| Giglia-Mari G, Miquel C, Theil AF, Mari PO, Hoogstraten D, Ng JM, Dinant C, Hoeijmakers JH, Vermeulen W | Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells. | PLoS Biol June 1, 2006 |
| 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 April 27, 2007 |
| Bethke L, Murray A, Webb E, Schoemaker M, Muir K, McKinney P, Hepworth S, Dimitropoulou P, Lophatananon A, Feychting M, Lonn S, Ahlbom A, Malmer B, Henriksson R, Auvinen A, Kiuru A, Salminen T, Johansen C, Christensen HC, Kosteljanetz M, Swerdlow A, Houlston R | Comprehensive analysis of DNA repair gene variants and risk of meningioma. | J Natl Cancer Inst Jan. 20, 2008 |
| Briggs FB, Goldstein BA, McCauley JL, Zuvich RL, De Jager PL, Rioux JD, Ivinson AJ, Compston A, Hafler DA, Hauser SL, Oksenberg JR, Sawcer SJ, Pericak-Vance MA, Haines JL, Barcellos LF | Variation within DNA repair pathway genes and risk of multiple sclerosis. | Am J Epidemiol July 15, 2010 |
Last modification of this entry: Oct. 6, 2010.
Add your own comment!
There is no comment yet.
|
|
|
|