factor IIH subunit 5 is a protein that in humans is encoded by the GTF2H5 gene. The GTF2H5(TTDA) gene encodes a small (71 amino acid) protein that stabilizes...
4 KB (529 words) - 00:32, 2 December 2023
consists of ten subunits: ERCC2, ERCC3, GTF2H1, GTF2H2, GTF2H3, GTF2H4, GTF2H5, MNAT1, CDK7 and CCNH. TTDA is also required for the stability of the TFIIH...
4 KB (526 words) - 02:24, 29 November 2023
recessive ST14 Trichothiodystrophy 601675 Autosomal recessive ERCC2, ERCC3, GTF2H5 Trichothiodystrophy (non-congenital forms) 275550 211390 601675 Autosomal...
14 KB (964 words) - 10:28, 15 July 2024
HGNC:31394 Q6P1K8 6732 GTF2H3 HGNC:4657 Q13889 6733 GTF2H4 HGNC:4658 Q92759 6734 GTF2H5 HGNC:21157 Q6ZYL4 6735 GTF2I HGNC:4659 P78347 6736 GTF2IRD1 HGNC:4661 Q9UHL9...
277 KB (17 words) - 15:46, 9 May 2024
DNA damages including 8-oxoguanine, 5-hydroxycytosine and cyclopurines GTF2H5 (TTDA) Nucleotide excision repair deficiency causes trichothiodystrophy...
42 KB (3,756 words) - 04:23, 25 March 2024
DNA damages including 8-oxoguanine, 5-hydroxycytosine and cyclopurines GTF2H5 (TTDA) Nucleotide excision repair deficiency causes trichothiodystrophy...
96 KB (10,994 words) - 05:19, 16 August 2024
(ERCC2/XPD, ERCC3/XPB, GTF2H1/p62, GTF2H4/p52, GTF2H2/p44, GTF2H3/p34 and GTF2H5/TTDA) form the core complex. The cyclin-activating kinase-subcomplex (CDK7...
11 KB (1,184 words) - 17:23, 4 December 2023
light. TTD is caused by mutations in one of three genes, ERCC2, ERCC3, or GTF2H5, the first two of which are also linked to xeroderma pigmentosum. However...
74 KB (8,726 words) - 06:14, 3 June 2024
osteodystrophy GNAQ Blue nevus Uveal melanoma Port-wine stain Sturge-weber syndrome GTF2H5 (TFBS) Trichothiodystrophy GLA Alpha-galactosidase Fabry disease GLUT-1...
12 KB (108 words) - 02:46, 17 September 2022
shown to interact with: BCR gene, CDK7, ERCC2, GTF2H1, GTF2H2, GTF2H4, GTF2H5, P53, PSMC5, and XPC. Potent, bioactive natural products like triptolide...
17 KB (2,058 words) - 01:14, 28 June 2024
Trichothiodystrophy; 601675; ERCC3 Trichothiodystrophy, complementation group A; 601675; GTF2H5 Trichothiodystrophy, nonphotosensitive 1; 234050; C7orf11 Trichotillomania;...
234 KB (18,877 words) - 15:43, 9 May 2024
the centromeric copy of the gene. GTF2H2 has been shown to interact with GTF2H5, XPB and ERCC2. Transcription Factor II H ENSG00000276910, ENSG00000275045...
11 KB (1,392 words) - 16:59, 31 March 2024