USP19

Chr 3

ubiquitin specific peptidase 19

Also known as: ZMYND9

NCBI Gene: 10869 ENSG00000172046 UniProt: O94966

USP19 encodes a deubiquitinating enzyme that removes ubiquitin from proteins to prevent their degradation, regulating processes including muscle development, endoplasmic reticulum protein quality control, and cellular responses to hypoxia. Mutations cause autosomal recessive developmental and epileptic encephalopathy with early-onset seizures and severe developmental delay. The gene is highly constrained against loss-of-function variants in the general population.

ResearchSummary from RefSeq, UniProt

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]

ResearchGenerating clinical summary…

LOEUF 0.20

Clinical Summary— USP19

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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Clinical Trials

1 active or recruiting trial — potential therapeutic options may be available

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