USP45 Chromosome 6
Ubiquitin specific peptidase 45
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What This Gene Does
The protein encoded by this gene is a deubiquitylase that binds ERCC1, the catalytic subunit of the XPF-ERCC1 DNA repair endonuclease. This endonuclease is a critical regulator of DNA repair processes, and the deubiquitylase activity of the encoded protein is important for maintaining the DNA repair ability of XPF-ERCC1. [provided by RefSeq, Sep 2016]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
6q16.2
Ensembl
ENSG00000123552
Associated Conditions (2)
Short stature
Leber congenital amaurosis 19
Key Variants
RS1562308994
Likely pathogenic
Short stature, Short stature
Health Risk
RS1562391520
Likely pathogenic
Short stature, Short stature
Health Risk
RS1562456317
Likely pathogenic
Short stature, Short stature
Health Risk
RS141844660
Pathogenic
Short stature, Short stature
Health Risk
RS202240410
Pathogenic
Leber congenital amaurosis 19, Leber congenital amaurosis 19
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1562308994 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS1562391520 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS1562456317 | Health Risk | Likely pathogenic | Short stature, Short stature |
| RS141844660 | Health Risk | Pathogenic | Short stature, Short stature |
| RS202240410 | Health Risk | Pathogenic | Leber congenital amaurosis 19, Leber congenital amaurosis 19 |