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.
8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITYβ Experimental GO Evidenceβ Swiss-Prot Reviewed
intracellular membraneless organellemRNA 3'-UTR bindingoocyte maturationnegative regulation of translationHereditary breast and ovarian cancer syndromehereditary breast ovarian cancer syndromebreast-ovarian cancer, familial, susceptibility to, 2dyshidrosis
Based on limited published evidence, ZAR1L is an mRNA-binding protein required for maternal mRNA storage, translation, and degradation during oocyte maturation. It binds to the 3'-UTR of maternal mRNAs and inhibits their translation in immature oocytes 1. ZAR1L undergoes liquid-liquid phase separation to form membraneless compartments storing maternal mRNAs. The conserved C-terminal CxxC domain is functionally critical 1. ZAR1L colocalizes with P-body and chr13 body components, suggesting roles in RNA regulation during early embryonic development 2. Its dominant-negative expression causes two-cell-stage embryonic arrest with altered histone methylation patterns 2.
1
ZAR1L (ZAR2) binds maternal transcripts and inhibits translation in oocytes; conserved C-terminal CxxC domain is functionally important
PMID: 350727882
ZAR1L colocalizes with P-body and chromatoid body components; dominant-negative mutant causes two-cell-stage embryonic arrest with altered histone methylation
PMID: 20014101β Limited data available β This gene has 2 indexed publications. Summary and analysis may be incomplete.
Hereditary breast and ovarian cancer syndromeOpen Targets
hereditary breast ovarian cancer syndromeOpen Targets
breast-ovarian cancer, familial, susceptibility to, 2Open Targets
neurodegenerative diseaseOpen Targets
schizophreniaOpen Targets
actinic keratosisOpen Targets
HypercholesterolemiaOpen Targets
squamous cell carcinomaOpen Targets
basal cell carcinomaOpen Targets
non-melanoma skin carcinomaOpen Targets
squamous cell lung carcinomaOpen Targets
hypothyroidismOpen Targets
placenta praeviaOpen Targets
Abruptio PlacentaeOpen Targets
hyperlipidemiaOpen Targets
metabolic diseaseOpen Targets
response to statinOpen Targets
Abnormality of refractionOpen Targets
No pathogenic variants reported on ClinVar for this gene.