| Modification Notes |
The ubiquitin (Ub) pathway involves three sequential enzymatic steps that facilitate the conjugation of Ub and Ub-like molecules to specific protein substrates. Through the use of a wide range of enzymes that can add or remove ubiquitin, the Ub pathway controls many intracellular processes such as signal transduction, transcriptional activation and cell cycle progression. USP42 (ubiquitin specific peptidase 42) is a 1,325 amino acid protein that belongs to the peptidase C19 family. Expressed in a variety of tissues, USP42 functions to catalyze the conversion of a ubiquitin C-terminal thioester to a free ubiquitin and a thiol. The gene encoding USP42 maps to human chromosome 7, which houses over 1,000 genes and comprises nearly 5% of the human genome. Defects in some of the genes localized to chromosome 7 have been linked to Osteogenesis imperfecta, Williams-Beuren syndrome, Pendred syndrome, Lissencephaly, Citrullinemia and Shwachman-Diamond syndrome. |