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Ovarian Kaleidoscope Database (OKdb)

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HPMR

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ERCC excision repair 3, TFIIH core complex helicase subunit OKDB#: 3277
 Symbols: ERCC3 Species: human
 Synonyms: XPB, BTF2, TTD2, GTF2H, RAD25, TFIIH  Locus: 2q14.3 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment NCBI Summary: 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. [provided by RefSeq, Dec 2014]
General function Cell death/survival, Apoptosis, DNA repair, Enzyme, Hydrolase, Nucleic acid binding, DNA binding, Transcription factor
Comment
Cellular localization Nuclear
Comment
Ovarian function Oogenesis, Oocyte maturation
Comment Gene whose expression is detected by cDNA array hybridization: GDP/GTP exchangers, GTPase stimulators and inhibitors, apoptosis. Also, relative transcript level reproducibly increases during IVM Rozenn Dalbis-Tran and Pascal Mermilloda
Expression regulated by
Comment
Ovarian localization Oocyte
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 22, 2006, 2:46 p.m. by: alex   email:
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last update: March 21, 2020, 3:58 p.m. by: hsueh    email:



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