DNA excision repair protein ERCC-1

Definition:

[Isoform 1]: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4.; [Isoform 2]: Not functional in the nucleotide excision repair pathway.; [Isoform 3]: Not functional in the nucleotide excision repair pathway.; [Isoform 4]: Not functional in the nucleotide excision repair pathway.

References:

[1]. Luc Friboulet, et al. ERCC1 function in nuclear excision and interstrand crosslink repair pathways is mediated exclusively by the ERCC1-202 isoform. Cell Cycle. 2013 Oct 15;12(20):3298-306. [Content Brief]

[2]. Kazuya Kashiyama, et al. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. Am J Hum Genet. 2013 May 2;92(5):807-19. [Content Brief]

[3]. Nicolaas G J Jaspers, et al. First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. Am J Hum Genet. 2007 Mar;80(3):457-66. [Content Brief]

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