2 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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8PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
pentose-phosphate shunt, non-oxidative branchcytosolmetal ion bindingcarbohydrate metabolic processOvarian cystedemauterine fibroidUterine leiomyoma
Based on limited published evidence, RPEL1 catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate, functioning in the non-oxidative pentose-phosphate pathway. The protein localizes to the cytosol and contains metal ion binding activity. RPEL1 gene polymorphisms (rs4917385) have been associated with susceptibility to systemic lupus erythematosus and anxiety symptoms in Chinese populations 1. RPEL1 was investigated as a candidate gene for autosomal dominant hearing impairment but no disease-causing mutations were identified 2.
1
RPEL1 rs4917385 polymorphism associated with SLE susceptibility, anxiety symptoms, and depression in Chinese SLE patients
PMID: 361944842
RPEL1 sequenced as candidate gene for DFNA21 hearing impairment but no mutations identified
PMID: 16007628⚠Limited data available — This gene has 2 indexed publications. Summary and analysis may be incomplete.
uterine fibroidOpen Targets
Uterine leiomyomaOpen Targets
cervical adenocarcinomaOpen Targets
cervical cancerOpen Targets
cervical carcinomaOpen Targets
caudal duplicationOpen Targets
hepatorenocardiac degenerative fibrosisOpen Targets
Senior-Boichis syndromeOpen Targets
endometrial cancerOpen Targets
endometrial neoplasmOpen Targets
colorectal adenocarcinomaOpen Targets
46,XX ovotesticular disorder of sex developmentOpen Targets
46,XY complete gonadal dysgenesisOpen Targets
Müllerian duct anomalies - limb anomaliesOpen Targets
mullerian duct anomalies-limb anomalies syndromeOpen Targets
46,XX gonadal dysgenesisOpen Targets
primary ovarian insufficiencyOpen Targets
kidney failureOpen Targets
No pathogenic variants reported on ClinVar for this gene.