Function
ATP-dependent 3'-5' DNA helicase/translocase. Binds dsDNA rather than ssDNA, unzipping it in a translocase rather than classical helicase activity. Component of the general transcription and DNA repair factor IIH (TFIIH) core complex.
Biological Context
Subcellular Location: Nucleus
Disease Association: Xeroderma pigmentosum complementation group B (XP-B) : 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. [The disease is caused by variants affecting the gene represented in this entry] | Trichothiodystrophy 2, photosensitive (TTD2) : 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human General transcription and DNA repair factor IIH helicase subunit XPB (ERCC3) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-782aa, with N-terminal GST-tagged tag, molecular weight 115.6kDa, purity Greater than 85% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
