Function
Not functional in the nucleotide excision repair pathway.
Biological Context
Subcellular Location: Nucleus
Disease Association: Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) : A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Mouse anti-Human ERCC1 Monoclonal Antibody is a recombinant protein. Suitable for ELISA and Western Blot applications. Explore more Antibody products →
