ERCC3 (Excision Repair Cross-Complementation Group 3) is a Protein Coding gene. Diseases associated with ERCC3 include xeroderma pigmentosum, group b and trichothiodystrophy 2, photosensitive. Among its related pathways are Gene Expression and HIV Life Cycle. GO annotations related to this gene include protein kinase activity and hydrolase activity. This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants.
ATP-dependent 3-5 DNA helicase, component of the core-TFIIH basal transcription factor, involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. Acts by opening DNA either around the RNA transcription start site or the DNA damage. Trichothiodystrophy 2, photosensitive (TTD2) [MIM:616390]: A form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. Note=The disease is caused by mutations affecting the gene represented in this entry. Xeroderma pigmentosum complementation group B (XP-B) [MIM:610651]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-B patients present features of Cockayne syndrome, including cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. XPB (xeroderma pigmentosum type B) is an ATP-dependent DNA helicase in humans that is a part of the TFIIH transcription factor complex. XPB plays a significant role in normal basal transcription, transcription coupled repair (TCR), and nucleotide excision repair (NER). Purified XPB has been shown to unwind DNA with 3’-5’ polarity. The function about ERCC3 antigen include 3-5 DNA helicase activity; 3-5 DNA helicase activity; ATP binding; ATP-dependent DNA helicase activity; ATPase activity; DNA binding; contributes_to DNA-dependent ATPase activity; contributes_to DNA-dependent ATPase activity; GTP binding; contributes_to R.
Basal transcription factors, organism-specific biosystem; Basal transcription factors, conserved biosystem; DNA Repair, organism-specific biosystem; Disease, organism-specific biosystem; Dual incision reaction in GG-NER, organism-specific biosystem; Dual incision reaction in TC-NER, organism-specific biosystem; Eukaryotic Transcription Initiation, organism-specific biosystem.