Literature associating CSB-PGBD3 and congenital myasthenic syndrome
Chimeric ERCC6-PGBD3 protein; Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristic of interferon-like antiviral responses. This response is almost completely suppressed in the presence of ERCC6. In the presence of ERCC6, regulates the expression of genes involved in metabolism regulation, including IGFBP5 and IGFBP7. In vitro binds to PGBD3-related transposable elements, called MER85s; these non-autonomous 140 bp elements are characterized by the presence of PGBD3 terminal inverted repeats and the absence of internal transposase ORF; Belongs to the SNF2/RAD54 helicase family.
Synonyms: ERCC6-PGBD3, PGBD3, E7EV46, PGBD3p, hPGBD3 ...