1 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
ubiquitin-like ligase-substrate adaptor activityproteasome-mediated ubiquitin-dependent protein catabolic processcytoplasmCul2-RING ubiquitin ligase complexazoospermiapartial chromosome Y deletionspermatogenic failure 57spermatogenic failure 50
Based on limited published evidence, PRAMEF1 functions as a component of the Cul2-RING ubiquitin ligase complex involved in proteasome-mediated ubiquitin-dependent protein catabolism, localized to the cytoplasm with ubiquitin-like ligase-substrate adaptor activity. PRAMEF1 is significantly overexpressed in androgenotes compared to biparental embryos 1, suggesting a role in paternal genome contribution during early zygotic genome activation in embryonic development. However, its specific molecular targets and precise mechanisms remain undefined.
1
PRAMEF1 is significantly overexpressed in androgenotes, highlighting paternal genome contributions to early embryonic zygotic genome activation
PMID: 38622061β Limited data available β This gene has 1 indexed publication. Summary and analysis may be incomplete.
partial chromosome Y deletionOpen Targets
spermatogenic failure 57Open Targets
spermatogenic failure 50Open Targets
spermatogenic failure 25Open Targets
spermatogenic failure, X-linked, 2Open Targets
spermatogenic failure 71Open Targets
spermatogenic failure 63Open Targets
isochromosomy YpOpen Targets
spermatogenic failure 61Open Targets
spermatogenic failure 62Open Targets
spermatogenic failure 88Open Targets
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
spermatogenic failure 59Open Targets
spermatogenic failure 60Open Targets
spermatogenic failure 73Open Targets
spermatogenic failure 74Open Targets
spermatogenic failure 48Open Targets
isochromosomy YqOpen Targets
spermatogenic failure 93Open Targets
No pathogenic variants reported on ClinVar for this gene.