USP48 Chromosome 1
Ubiquitin specific peptidase 48
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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
1p36.12
Ensembl
ENSG00000090686
Associated Conditions (2)
Hearing loss
autosomal dominant 85
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201971084 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 85, Hearing loss |
| RS2550305195 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 85, Hearing loss |