rs113169913

This variant is located in the USP8 gene.

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Hereditary spastic paraplegia; not provided

About USP8

This 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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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