人 ERCC2 (NM_001130867) cDNA克隆

Accession: NM_001130867
基因名称: ERCC2
基因别名: EM9; TTD; XPD; COFS2
基因描述: Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 2 (ERCC2), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1218 (查看编码区序列)
翻译后氨基酸长度: 405 (查看氨基酸序列)
Transcript Variant: This variant (2) has an additional segment in the 5' region, which results in a downstream AUG start codon, and lacks multiple 3' exons but has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus and a distinct and shorter C-terminus, as compared to isoform 1.
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G101693 人 ERCC2 (NM_001130867) cDNA克隆 pDONR223 2ug质粒 点击询价

The nucleotide excision repair pathway is a mechanism to repair damage to DNA. The protein encoded by this gene is involved in transcription-coupled nucleotide excision repair and is an integral member of the basal transcription factor BTF2/TFIIH complex. The gene product has ATP-dependent DNA helicase activity and belongs to the RAD3/XPD subfamily of helicases. Defects in this gene can result in three different disorders, the cancer-prone syndrome xeroderma pigmentosum complementation group D, trichothiodystrophy, and Cockayne syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]