USP11 Chromosome X
Ubiquitin specific peptidase 11
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What This Gene Does
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 gene encodes a deubiquitinating enzyme which lies in a gene cluster on chromosome Xp11.23 [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ubiquitin specific peptidases
Locus Type
gene with protein product
Location
Xp11.3
Ensembl
ENSG00000102226
Associated Conditions (5)
Dynein arm defect of respiratory motile cilia
Absent inner and outer dynein arms
Abnormal ciliary motility
Bronchiectasis
Abnormal brain morphology
Key Variants
RS200769176
Conflicting classifications of pathogenicity
Health Risk
RS777516785
Likely pathogenic
Dynein arm defect of respiratory motile cilia, Absent inner and outer dynein arms, Abnormal ciliary motility
Health Risk
RS780096892
Likely pathogenic
Abnormal brain morphology, Abnormal brain morphology
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200769176 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS777516785 | Health Risk | Likely pathogenic | Dynein arm defect of respiratory motile cilia, Absent inner and outer dynein arms, Abnormal ciliary motility |
| RS780096892 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |