Gene Symbol | GTF2H5 |
Entrez Gene ID | 404672 |
Full Name | general transcription factor IIH subunit 5 |
Synonyms | C6orf175,TFB5,TFIIH,TGF2H5,TTD,TTD-A,TTD3,TTDA,bA120J8.2 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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, Mar 2009]. |
Disorder MIM: | |
Disorder Html: | Trichothiodystrophy 3, photosensitive, 616395 (3) |