GENETIC ENCYCLOPEDIA
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gene: USP8

id9101
symbolUSP8
organismHomo sapiens
full nameubiquitin specific peptidase 8
summaryThis gene encodes a protein that belongs to the ubiquitin-specific processing protease family of proteins. The encoded protein is thought to regulate the morphology of the endosome by ubiquitination of proteins on this organelle and is involved in cargo sorting and membrane trafficking at the early endosome stage. This protein is required for the cell to enter the S phase of the cell cycle and also functions as a positive regulator in the Hedgehog signaling pathway in development. Pseudogenes of this gene are present on chromosomes 2 and 6. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
variant-disease

NM_001128610.3(USP8):c.928C>A (p.Gln310Lys) AND not provided

NM_001128610.3(USP8):c.2153C>G (p.Ser718Cys) AND Pituitary dependent hypercortisolism

NM_005154.5(USP8):c.2320C>G (p.Pro774Ala) AND Hereditary spastic paraplegia

NM_005154.5(USP8):c.2443A>G (p.Asn815Asp) AND Hereditary spastic paraplegia

NM_005154.5(USP8):c.1162A>G (p.Lys388Glu) AND Hereditary spastic paraplegia

... 42 more


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