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Protein Coding Gene : Ercc3 excision repair cross-complementing rodent repair deficiency, complementation group 3

Primary Identifier  MGI:95414 Organism  mouse, laboratory
Chromosome  18 NCBI Gene Number  13872
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0)

Enables ATP hydrolysis activity and promoter-specific chromatin binding activity. Acts upstream of or within UV protection and transcription elongation by RNA polymerase I. Predicted to be located in nucleoplasm. Predicted to be part of RNA polymerase II transcription regulator complex; nucleotide-excision repair factor 3 complex; and transcription preinitiation complex. Is expressed in several structures, including brain; eye; liver; oral region epithelium; and tooth. Used to study xeroderma pigmentosum group B. Human ortholog(s) of this gene implicated in lung non-small cell carcinoma; photosensitive trichothiodystrophy 2; trichothiodystrophy; xeroderma pigmentosum; and xeroderma pigmentosum group B. Orthologous to human ERCC3 (ERCC excision repair 3, TFIIH core complex helicase subunit).
PHENOTYPE: Mice homozygous for a frame shift mutation in exon 15 exhibit embryonic lethality prior to E8.5. Mice homozygous for a frame shift mutation following by a stop codon insertion in exon 15 exhibit increased sensitivity to ultraviolet- and gamma-irradiation. [provided by MGI curators]
  • synonyms:
  • Ercc-3,
  • XPB,
  • Ercc3,
  • excision repair cross-complementing rodent repair deficiency, complementation group 3,
  • MGD-MRK-9580,
  • excision repair 3,
  • MGD-MRK-9577

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