USP8 Chromosome 15
Ubiquitin specific peptidase 8
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What This Gene Does
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]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
15q21.2
Ensembl
ENSG00000138592
Associated Conditions (3)
Hereditary spastic paraplegia
Autosomal recessive spastic paraplegia type 59
Pituitary dependent hypercortisolism
Key Variants
RS148244041
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Autosomal recessive spastic paraplegia type 59, Hereditary spastic paraplegia
Health Risk
RS2052448846
Pathogenic
Health Risk
RS672601306
Pathogenic
Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism
Health Risk
RS672601307
Pathogenic
Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism
Health Risk
RS672601308
Pathogenic
Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism
Health Risk
RS672601311
Pathogenic
Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS148244041 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Autosomal recessive spastic paraplegia type 59, Hereditary spastic paraplegia |
| RS2052448846 | Health Risk | Pathogenic | — |
| RS672601306 | Health Risk | Pathogenic | Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism |
| RS672601307 | Health Risk | Pathogenic | Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism |
| RS672601308 | Health Risk | Pathogenic | Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism |
| RS672601311 | Health Risk | Pathogenic | Pituitary dependent hypercortisolism, Pituitary dependent hypercortisolism |