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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.
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