Ask about this productRelated genes to: MCOLN3 Blocking Peptide
- Gene:
- MCOLN3 NIH gene
- Name:
- mucolipin 3
- Previous symbol:
- -
- Synonyms:
- TRPML3, FLJ11006, TRP-ML3
- Chromosome:
- 1p22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-04-04
- Date modifiied:
- 2014-11-19
Related products to: MCOLN3 Blocking Peptide
Related articles to: MCOLN3 Blocking Peptide
- There is a common basis of the diabetic nephropathy (DN) and diabetic retinopathy (DR), but the common genes of DN and DR were unclear. - Source: PubMed
Publication date: 2026/04/28
He JuanZhang DandanWang Yan - Parkinson's disease (PD) is the second most common progressive neurodegenerative disease that severely affects the quality of life and there is an urgent need to explore unique and effective diagnostic markers. The present study aimed to develop and validate a multigene combination model for the diagnosis of PD based on autophagy-related genes (ARGs) and to discover their correlation with immune infiltrating cells. - Source: PubMed
Publication date: 2026/03/31
Dong ZiyeDai FanshuXing NaWu QiaoliGao HezhenKan PengchengHan YuanCheng XiuliWang YaruFeng XuequanZhang Biao - BACKGROUND: Mucolipidosis type IV (MLIV) is a rare autosomal recessive lysosomal storage disorder due to biallelic pathogenic variants in the MCOLN1 gene. Its main impact is on the central nervous system, leading to severe psychomotor delays, progressive visual impairment, and characteristic brain abnormalities. METHODS: A 12-year-old male from a consanguineous Iranian family underwent clinical and imaging evaluations for suspected MLIV. Exome sequencing identified the causative variant, confirmed by Sanger co-segregation analysis, in silico tools assessed pathogenicity, protein stability, and structural impact, followed by 3D modeling (I-TASSER) and protein interaction analysis (STRING). Molecular dynamics simulations were performed with GROMACS 2020.4 employing the GROMOS96 43a1 force field to compare wild-type and mutant structures, evaluating key parameters, including root mean square deviation (RMSD), radius of gyration (Rg), hydrogen bond profiles, and solvent-accessible surface area (SASA), were analyzed, and results which were visualized using GraphPad Prism. RESULTS: Exome sequencing revealed a previously unreported homozygous nonsense variant in MCOLN1 (NM_020533.3: c.1384G > T; p.Glu462). This variant introduces a premature termination codon predicted to yield a truncated protein if translated; however, it is likely subject to nonsense-mediated mRNA decay, leading to transcript degradation and consequent loss of functional protein. Sanger sequencing confirmed the variant and its co-segregation within the family, with both parents heterozygous carriers and the patient homozygous. Bioinformatic analysis classified the variant as likely pathogenic, with high deleteriousness scores. Structural modeling indicated disruption of a helical domain. STRING analysis demonstrated strong functional associations between MCOLN1 and its paralogs MCOLN2 and MCOLN3, supporting its biological relevance. This variant expands the known spectrum of genetic causes of MLIV. CONCLUSION: We report the first Iranian case of MLIV due to a novel homozygous nonsense variant in MCOLN1 (c.1384G > T; p.Glu462*). These findings expand the spectrum of MLIV, underscore phenotypic variability and the value of population-specific genetic data in rare disease diagnostics, and support the inclusion of this variant in targeted diagnostic panels for Iranian patients. - Source: PubMed
Publication date: 2025/12/22
Mohsenipour MohaddeseNejati ParhamKhosravi TeymoorAlimoradi ElhamSalehi MohammadOladnabi MortezaAlibakhshi Reza - Acquired resistance to tyrosine kinase inhibitors (TKIs), such as osimertinib, poses a major barrier to effective treatment of non-small cell lung cancer (NSCLC). Recent data suggest that lysosomal Ca signaling, particularly via transient receptor potential mucolipin 3 (TRPML3; also known as MCOLN3), contributes to TKI resistance by promoting lysosomal exocytosis and drug efflux. Here, we investigated the regulatory role of microRNA-601 (miR-601) in modulating TRPML3 expression and its impact on osimertinib resistance in NSCLC. Bioinformatic predictions using the DIANA microT-CDS algorithm identified TRPML3 as a putative target of miR-601. Luciferase reporter assays confirmed direct binding of miR-601 to the TRPML3 3'-untranslated region. Functional assays were conducted with parental and osimertinib-resistant PC9 and HCC827 cells to evaluate the effects of miR-601 on TRPML3 expression, apoptosis, cell-cycle progression, and drug sensitivity. Osimertinib treatment led to a time-dependent miR-601 downregulation in NSCLC cells, and its basal expression remained suppressed in resistant sublines. miR-601 overexpression reduced TRPML3 protein levels, enhanced poly(ADP-ribose) polymerase cleavage, induced G0/G1 cell-cycle arrest, and restored osimertinib sensitivity. Similar effects were observed upon TRPML3 knockdown, supporting a TRPML3-dependent mechanism. Thus, miR-601 negatively regulates TRPML3 and modulated TKI responses in NSCLC cells. Restoring miR-601 expression may represent a promising therapeutic strategy for overcoming acquired osimertinib resistance by targeting TRPML3-mediated lysosomal signaling. - Source: PubMed
Kim Mi SeongKim Min Seuk - Acute pancreatitis (AP) is a severe inflammatory disease. Transient receptor potential (TRP) channels have been reported to participate in various pathophysiological processes. However, the role of TRP channels in the AP remains unclear. Here, we investigated the involvement of TRP channels in AP. - Source: PubMed
Shen ShuangjunWu XiaowanCheng ZhiyuanWang RuiyanJiang JingJiang Weiliang