USP19 Chromosome 3
Ubiquitin specific peptidase 19
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What This Gene Does
Protein ubiquitination controls many intracellular processes, including cell cycle progression, transcriptional activation, and signal transduction. This dynamic process, involving ubiquitin conjugating enzymes and deubiquitinating enzymes, adds and removes ubiquitin. Deubiquitinating enzymes are cysteine proteases that specifically cleave ubiquitin from ubiquitin-conjugated protein substrates. This protein is a ubiquitin protein ligase and plays a role in muscle wasting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]
Gene Info
Gene Group
"Zinc fingers MYND-type|Ubiquitin specific peptidases"
Locus Type
gene with protein product
Location
3p21.31
Ensembl
ENSG00000172046
Associated Conditions (1)
Epileptic encephalopathy
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1057519452 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |
| RS375659415 | Health Risk | Pathogenic | Epileptic encephalopathy, Epileptic encephalopathy |