2 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
cysteine-type deubiquitinase activityregulation of apoptotic processnucleuscytosolimmunodeficiency 19combined immunodeficiency with skin granulomasimmunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaimmunodeficiency 15a
Based on limited published evidence, USP17L7 encodes a cysteine-type deubiquitinase localized to the cytosol and nucleus with annotated roles in regulating apoptotic processes and protein stability. However, no functional studies directly characterize its enzymatic activity or molecular mechanisms. USP17L7 copy number variations were associated with poor prognosis in lung squamous cell carcinoma patients 1 and showed association with gut microbiota composition 2, though the biological significance of these associations remains unclear.
1
USP17L7 copy number variations in counterpart normal controls were associated with poor prognosis in lung squamous cell carcinoma patients
PMID: 291851222
USP17L7 copy number variations were related to gut microbiota composition differences among cohort individuals
PMID: 40659563β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
immunodeficiency 19Open Targets
combined immunodeficiency with skin granulomasOpen Targets
immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemiaOpen Targets
immunodeficiency 15aOpen Targets
ring chromosome YOpen Targets
X-Linked Combined Immunodeficiency DiseasesOpen Targets
severe combined immunodeficiency due to LAT deficiencyOpen Targets
obesity due to congenital leptin deficiencyOpen Targets
immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopeniasOpen Targets
immunodeficiency 105Open Targets
Alymphoid cystic thymic dysgenesisOpen Targets
obesity due to leptin receptor gene deficiencyOpen Targets
immunodeficiency 112Open Targets
common variable immunodeficiencyOpen Targets
combined immunodeficiency due to ZAP70 deficiencyOpen Targets
spermatogenic failure 84Open Targets
spermatogenic failure 93Open Targets
spermatogenic failure 65Open Targets
immunodeficiency 18Open Targets
immunodeficiency 76Open Targets
No pathogenic variants reported on ClinVar for this gene.