OCRL Mouse Monoclonal Antibody
- Known as:
- OCRL Mouse Monoclonal Antibody
- Catalog number:
- BIN-004952-M02
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Zyagen
- Gene target:
- OCRL Mouse Monoclonal Antibody
Related genes to: OCRL Mouse Monoclonal Antibody
- Gene:
- OCRL NIH gene
- Name:
- OCRL inositol polyphosphate-5-phosphatase
- Previous symbol:
- -
- Synonyms:
- OCRL1
- Chromosome:
- Xq26.1
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-01-22
Related products to: OCRL Mouse Monoclonal Antibody
Related articles to: OCRL Mouse Monoclonal Antibody
- : To date, approximately 360 pathogenic variants of the gene have been reported, including frameshift, substitution, gross inversion, nonsense, and missense mutations. These genetic alterations have been associated with a broad phenotypic spectrum of Lowe syndrome, contributing to considerable variability in disease severity and clinical presentation. Missense variants are typically associated with preserved messenger RNA expression in fibroblasts, whereas more deleterious mutations result in markedly reduced expression of the transcript or protein product. Pathogenic variants in the gene have also been identified in patients with Dent's disease type 2. : This case report describes a pediatric male patient with autism spectrum disorder and renal dysfunction, who was found to harbor a variant of uncertain clinical significance in the gene and a pathogenic 16p11.2 chromosomal deletion. The patient, a 12-year-old boy with autism, presented with proteinuria during hospitalization for febrile gastroenteritis and streptococcal infection. Further evaluation revealed focal glomerulosclerosis, tubular calcium phosphate deposits, albuminuria, and hypercalciuria. Ophthalmologic examination additionally demonstrated bilateral lens opacities in the absence of congenital cataracts, as well as hyperopia. The coexistence of these clinical manifestations together with the identified gene variant raises the possibility of an atypical presentation of Dent disease type 2. Nevertheless, continued clinical and genetic follow-up remains warranted to further clarify the pathogenic significance of the detected variant and to establish a definitive diagnosis. : The uniqueness of this case resides in the coexistence of two independent genetic findings presenting a phenotype-attribution challenge. Furthermore, the identified phenotype may warrant consideration as a possible previously unreported phenotypic presentation situated along the clinical spectrum between Lowe syndrome and Dent disease type 2. The main contribution of this report is to illustrate the interpretative challenges of a concurrent pathogenic 16p11.2 deletion and an variant of uncertain significance in a patient with renal disease and neurodevelopmental features. - Source: PubMed
Publication date: 2026/07/17
Chronis ChristosStefanaki CharikleiaStergiou NikolaosKokkou EleniMakrythanasis PeriklisKosma KonstantinaTilemis Faidon-NikolaosTsouprou MariaTola ElonaFilippou OlgaBotsa Evanthia - Lowe syndrome (LS) is an X-linked disorder caused by OCRL mutations, encoding a phosphatidylinositol 5-phosphatase. OCRL regulates phosphatidylinositol-(4,5)-bisphosphate [PI(4,5)P]-dependent cytoskeletal dynamics and membrane trafficking in multiple cell types, including platelets. Clinically, LS manifests with cataracts, hypotonia, developmental delay, and progressive kidney disease. A subset of LS individuals shows bleeding tendency and occasional mild thrombocytopenia despite normal coagulation tests. Studies reveal impaired thrombus growth under flow, delayed platelet spreading on fibrinogen, abnormal clot retraction, and altered platelet formation with circulating barbell-shaped immature platelets, supporting a platelet dysfunction phenotype in LS, though exact molecular mechanisms remain undefined. Experimental studies suggest OCRL controls PI(4,5)P pools required for coordinated actin and microtubule remodeling during platelet adhesion and thrombopoiesis. Pharmacological OCRL inhibition recapitulates defective spreading, persistent filopodia, actin nodules, and impaired marginal microtubule band depolymerization without major loss of GPIb-IX-V or αIIbβ3 receptors, supporting a signaling and cytoskeletal mechanism. Elevated plasma fibrinogen, VWF, and FVIII in LS may partially offset bleeding, though their contribution to the LS phenotype and relationship to vascular/hepatic involvement remains unclear. Similarly, while the OCRL homolog INPP5B is abundant in platelets, its capacity to compensate for OCRL deficiency appears limited and requires further investigation. Recognition of this OCRL-dependent platelet phenotype has important clinical implications, including caution before surgical procedures and usage of medications that may worsen bleeding, highlighting the need for targeted diagnostic approaches and further mechanistic studies to improve the management of individuals with LS. - Source: PubMed
Publication date: 2026/07/02
Bura AnaJurak Begonja Antonija - Nail-patella syndrome (NPS) is an autosomal dominant disorder caused by LMX1B mutations and typically associated with glomerular proteinuria. We report three brothers carrying a maternally inherited heterozygous LMX1B mutation (NM_001174147.2: c.309C > G (p.Cys103Trp)), all presenting with classical skeletal features of NPS. Two siblings developed early-onset proteinuria predominantly composed of low-molecular-weight proteins, hypercalciuria, and ophthalmologic abnormalities including cataracts and glaucoma; one also exhibited nephrocalcinosis. Further genetic analysis identified a hemizygous OCRL pathogenic mutation (NM_000276.4: c.2209G > A (p.Glu737Lys)) in the two affected brothers but not in the third sibling, who had no renal involvement. This intrafamilial discordance supports a dual genetic diagnosis. Our findings emphasize the importance of reconsidering the initial diagnosis when clinical features are atypical and highlight the value of comprehensive genetic testing in patients with unusual renal presentations. - Source: PubMed
Publication date: 2026/07/03
Benoit GenevièveCampeau Philippe MFiscaletti MélissaMiranda ValancyLaroche CamilleCambier Alexandra - By a comprehensive in silico workflow, this study investigates promising natural inhibitors of monoamine oxidase B (MAO-B) relevant to Parkinson's disease therapy. Selegiline is used as a pharmacophore scaffold to screen a large ZINC15 natural product library by drug-likeness, PAINS, ADMET, filters, followed by pharmacophore mapping, consensus docking, and MD simulations. This technique efficiently leads over 200,000 compounds to four hits (Lig-473, Lig-1781, Lig-2148, and Lig-2698), all of which demonstrated stronger binding affinities than selegiline. Docking studies showed that Lig-473 and Lig-2148 penetrate deeply into the FAD/substrate-binding cavity and interact with the conserved residues, while Lig-1781 and Lig-2698 mainly occupy the entrance region, blocking substrate access. MD simulations revealed Lig-473 and Lig-2148 form stable MAO-B complexes. MM/PBSA identified Lig-473 as the strongest binder. Translational relevance confirms their viability as safe, effective drug candidates with favorable ADMET profiles and minimal off-target effects. In total, these findings highlight Lig-473 and Lig-2148 as promising natural scaffolds for MAO-B inhibition, suggesting them for further experimental validation. - Source: PubMed
Publication date: 2026/06/17
Sayadi MostafaRamazani AliZarei Armin - Congenital glaucoma is the leading cause of vision loss in patients with Lowe syndrome (LS), a rare X-linked disease caused by mutations in the OCRL gene. OCRL encodes an inositol polyphosphate 5-phosphatase. Despite significant research efforts, the pathogenesis of glaucoma caused by OCRL deficiency remains unclear, partly due to the inaccessibility of patient-derived ocular cells. - Source: PubMed
Publication date: 2026/06/12
Sun YangKowal Tia JShen YingchunZhao JingyuWang BiaoLo Chien-HuiLachman Herbert M