1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
βGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
3PubMed Papers
4Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
ubiquitin protein ligase activityregulation of gene expressioninnate immune responsecytoplasmskin cancerGenu varumGenu valgumosteoarthritis
Based on limited published evidence, TRIM49D1 is a cytoplasmic ubiquitin protein ligase containing a tripartite motif domain with predicted roles in innate immune response and gene expression regulation. TRIM49D1 was identified as significantly differentially expressed in cells with truncated POU5F1 mutations associated with premature ovarian insufficiency 1, suggesting potential involvement in reproductive development, though direct functional studies of TRIM49D1 are lacking.
1
TRIM49D1 was significantly differentially expressed in POU5F1-truncated mutant cells linked to premature ovarian insufficiency, indicating possible involvement in reproductive/gonadal development pathways
PMID: 40744326β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
osteoarthritisOpen Targets
No pathogenic variants reported on ClinVar for this gene.