Protein-coding gene in the species Homo sapiens
Ubiquitin carboxyl-terminal hydrolase 48 is an enzyme that in humans is encoded by the "USP48" gene.
This gene encodes a protein containing domains that associate it with the peptidase family C19, also known as family 2 of ubiquitin carboxyl-terminal hydrolases. Family members function as deubiquitinating enzymes, recognizing and hydrolyzing the peptide bond at the C-terminal glycine of ubiquitin. Enzymes in peptidase family C19 are involved in the processing of poly-ubiquitin precursors as well as that of ubiquitinated proteins. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
In melanocytic cells USP48 gene expression may be regulated by MITF.
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Further reading.
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