Ask about this productRelated genes to: XPNPEP3 antibody
- Gene:
- XPNPEP3 NIH gene
- Name:
- X-prolyl aminopeptidase 3
- Previous symbol:
- -
- Synonyms:
- APP3, NPHPL1, ICP55
- Chromosome:
- 22q13.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-08-02
- Date modifiied:
- 2016-07-04
Related products to: XPNPEP3 antibody
Related articles to: XPNPEP3 antibody
- Epidemiological and clinical observations linking schizophrenia (SCZ) to increased dementia risk, together with the occurrence of psychosis in Alzheimer's disease and related dementias (ADRD), suggest that shared genetic liabilities may contribute to their co-occurrence. Leveraging large-scale genome-wide association study summary statistics for SCZ (53,386 cases and 77,258 controls) and ADRD (111,326 cases and 677,663 controls), we systematically investigated their shared genetic architecture and potential biological mechanisms. We identified three significant local genetic correlations (P < 2.0 × 10⁻⁵) and cross-trait polygenic enrichment between SCZ and ADRD, with 39 genomic loci jointly associated at conjunctional false discovery rate (conjFDR) < 0.05. Fifteen high-confidence genes (CNIH4, CD302, PCGF3, TFR2, EPHX2, SNX32, EFEMP2, CTSW, ASPHD1, TAOK2, INO80E, DOC2A, MAPK3, KANSL1, and XPNPEP3) were consistently prioritized across positional, expression quantitative trait locus, and chromatin-interaction mapping. Tissue- and cell-type enrichment analyses highlighted cerebellar tissues and ependymal-cell-related signals, while pathway analyses implicated synaptic signaling, axonal growth, and presynaptic structural organization. At the locus level, colocalization and transcriptome-wide association analyses converged on 16p11.2, prioritizing INO80E, YPEL3, SLX1B, and TMEM219. Developmental trajectory modeling further revealed region- and stage-specific expression divergence of prioritized 16p11.2 genes, with prominent differences spanning childhood and adulthood. Brain-wide association analysis linked the 16p11.2 lead variant rs9932702 to cortical gray-white contrast (β = -0.062, P = 7.5 × 10⁻¹⁵), a neuroimaging phenotype related to gray-white boundary microstructure and myelination. Finally, bidirectional Mendelian randomization supported a modest directional association between genetic liability to SCZ and increased ADRD risk, but not the reverse direction. Collectively, these findings provide convergent genetic, regulatory, transcriptomic, developmental, and imaging evidence for partial shared liability between SCZ and ADRD, highlighting 16p11.2 and biological processes related to neurodevelopment, synaptic and axonal organization, myelination-related microstructure, and later-life brain vulnerability. - Source: PubMed
Publication date: 2026/07/01
Chen YuCheng LeiWang QiLiu QingLi WenqiangWang ChuanshengLv LuxianYue Weihua - Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a broad spectrum of malformations and constitute the leading cause of end-stage kidney disease (ESKD) in childhood. Despite extensive research, a monogenic cause is identified in only ~10% of cases, while variable penetrance and expressivity suggest a more complex disease mechanism. Epigenetic and environmental factors have also been implicated, further complicating efforts to elucidate the etiology of these anomalies. - Source: PubMed
Publication date: 2026/05/28
Zisi AnnaKostoulas CharilaosSesse AthanasiaKosmeri ChrysoulaSerbis AnastasiosLee HaneGeorgiou IoannisSiomou Ekaterini - To identify plasma protein differences between type 2 diabetes mellitus (T2DM) patients with and without metabolic dysfunction-associated steatotic liver disease (MASLD), and to evaluate the diagnostic potential of X-prolyl aminopeptidase 3 (XPNPEP3) for identifying MASLD in T2DM patients. - Source: PubMed
Publication date: 2026/04/13
Ji HuaLu YatingLiu YichangJia YinguangLiu JieDeng DatongChen Mingwei - The pathogenesis of systemic lupus erythematosus (SLE) is closely associated with abnormal activation of B lymphocytes. Telitacicept simultaneously blocks B-cell stimulating factors and proliferation-inducing ligands, thereby inhibiting B-cell proliferation and differentiation, demonstrating favorable therapeutic efficacy in the majority of SLE patients. However, there is a lack of reliable biomarkers of efficacy and systematic elucidation of its mechanism of action. - Source: PubMed
Publication date: 2026/03/04
Nie HuiyuChang SiyuanChen HanhanShi JiahuiLi ShuPeng XiaofeiCheng WeiWang JiaTang QiGe YanXie XiLi Fen - Biallelic mutations in gene, encoding a mitochondrial peptidase, mainly cause nephronophthisis, but associated muscle involvement remains poorly described. We report here a 44-year-old male presenting since childhood with exercise intolerance and recurrent rhabdomyolysis. Electroneuromyography revealed a sensory axonal neuropathy and brain MRI showed white matter lesions in the posterior cranial fossa. Muscle biopsy revealed ragged-red fibers, COX negative fibers and abnormal mitochondria in electron microscopy. Whole genome sequencing identified a homozygous frameshift variant in the gene. Our results expand the spectrum associated with variants, including metabolic myopathy with subclinical central and peripheral nervous system involvement. - Source: PubMed
Publication date: 2025/09/15
Staedler KatiaNectoux JulietteMetay CorinneLermine AlbanVillar-Quiles Rocio-NurEvangelista TeresinhaLabasse ClemenceLacène EmmanuelleStojkovic Tanya