Ask about this productRelated genes to: CD107b antibody
- Gene:
- LAMP2 NIH gene
- Name:
- lysosomal associated membrane protein 2
- Previous symbol:
- -
- Synonyms:
- CD107b
- Chromosome:
- Xq24
- Locus Type:
- gene with protein product
- Date approved:
- 1990-08-03
- Date modifiied:
- 2019-04-23
Related products to: CD107b antibody
Related articles to: CD107b antibody
- Danon disease is a rare X-linked dominant disorder caused by pathogenic variants in , typically presenting with cardiomyopathy, skeletal myopathy, and intellectual disability, and showing a severe course in males. In this study, we report the case of a 29-year-old Han Chinese male with the classic triad, plus macular degeneration and a complex neuromuscular phenotype including axonal-demyelinating sensorimotor polyneuropathy. Whole-exome sequencing identified a hemizygous splice-donor variant in (NM_002294.2:c.928 + 1G > A). A functional analysis in peripheral blood with matched controls experimentally confirmed markedly reduced mRNA levels and decreased LAMP2 protein expression, supporting the variant as a loss-of-function allele. The patient rapidly progressed to end-stage heart failure and died 18 months after diagnosis, highlighting the severe multisystem impact of this variant. This case expands the functional evidence for pathogenic splice-site variants and suggests peripheral nervous system involvement in severe multisystem Danon disease. - Source: PubMed
Publication date: 2026/05/07
Hu YangLiu ShijieLiu QianLiu BosuZhang JintingSu HuipengYang LiGan LuluGuo YangfanHe Yan - Biogenesis of lysosome-related organelles complex 1 subunit 1 (BLOC1S1, also known as BLOS1) is a key gene involved in phagosome-lysosome maturation, transport, and autophagosome fusion, and it plays a crucial role in host resistance to Brucella infection. This study aimed to examine the effects of BLOS1 overexpression (oeBLOS1) on the stress response of goat macrophages and on intestinal microbiota composition. Peripheral blood mononuclear cells (PBMCs) were isolated from oeBLOS1 and wild-type (WT) goats and differentiated into macrophages. These macrophages were then stimulated with Brucella LPS to assess cytokine secretion and autophagy levels. Metagenomic sequencing was also performed to analyze the structural and functional profiles of the rectal fecal microbiota in these goats. After Brucella LPS stimulation, oeBLOS1 goat macrophages rapidly activated the NF-κB and TLR4 signaling pathways, promoting the synthesis and secretion of cytokines such as TNF-α (P < 0.05). Brucella LPS challenge also significantly increased the transcription of autophagy-related genes such as LAMP2 and BECN1, enhancing autophagic activity and bacterial clearance (P < 0.05). Furthermore, oeBLOS1 altered the intestinal microbiota, significantly enriching pathways linked to membrane transport and cell motility, and reducing the abundance of virulence factors and opportunistic pathogens, which may contribute to intestinal immune homeostasis. In summary, oeBLOS1 may help counteract Brucella LPS-induced infection by promoting the immune response, enhancing autophagy. In addition, it is associated with remodeling gut microbial function, suggesting a potential role in disease resistance. - Source: PubMed
Publication date: 2026/05/19
Wang CongliangLiu XiaoyuWan ShichengXie FangdeDai JianqiChen WenboQu LeiZhang LeiLi NaDu XiaominZhu HaijingHua Jinlian - Danon disease (DD) is a rare X-linked disorder caused by pathogenic or likely pathogenic variants in the lysosome-associated membrane protein 2 (LAMP2) gene. It primarily manifests as hypertrophic cardiomyopathy, myopathy, intellectual disability, and retinopathy, with males typically experiencing a more severe and early-onset phenotype. The pathophysiology of DD is linked to defective autophagy due to LAMP2 deficiency, leading to the accumulation of glycogen-filled vacuoles within cardiomyocytes and other tissues. This results in progressive cardiac hypertrophy, conduction abnormalities, and eventual heart failure, often necessitating heart transplantation. Skeletal muscle involvement is common in males, while cognitive impairments are observed in both genders, though more prevalent in males. Diagnosis is challenging due to the condition's rarity and variable presentation, highlighting the need for a multidisciplinary approach, including genetic testing for definitive diagnosis. Genetic testing must be performed only after proper genetic counseling is done. Differential diagnosis must be considered when DD is suspected, depending on the signs and symptoms, such as Fabry disease, PRKAG2, Pompe disease, and others. Management strategies currently focus on symptomatic treatment, with cardiac transplantation as a critical intervention for advanced cases. Emerging therapies, such as gene therapy targeting LAMP2, could help in altering disease progression. This review provides a comprehensive overview of DD, discussing its clinical manifestations, underlying mechanisms, diagnostic challenges, and potential therapeutic approaches in improving outcomes. Our goal is to increase the recognition of DD so that the prevention of possible complications and early diagnosis becomes feasible, ultimately leading to more favorable patient outcomes. - Source: PubMed
Publication date: 2026/05/15
Ribeiro Giovanna Napolitano PereiraLipari Layara Fernanda Vicente PereiraSenra Paula MendonçaPires Lucas Vieira LacerdaMizuta Marjorie HayashidaOlivetti Natália Quintella SangiorgiAiello Vera DemarchiKrieger José Eduardo - Lysosomal function is essential for cardiac proteostasis and cellular health, yet its regulation during ageing remains poorly defined. We aimed to determine whether whole-organ, fluorescence imaging using an In Vivo Imaging System (IVIS) provides a novel, rapid and scalable approach for quantifying lysosomal abundance in intact ex vivo hearts prior to deeper molecular analysis. - Source: PubMed
Publication date: 2026/05/19
Albulushi JawaherCoghlan HannahMoothanchery MoheshDev AiswaryaAkerman EmilyHeenan JasmineHelassa NordineAdegbite OluwatobiSharma ParveenPatel FenilHarrison LibbyMaguire Mahon LMirams Gary RSwietach PawelPoptani HarishBurton Rebecca Ab - Chaperone-mediated autophagy (CMA) promotes cancer cell survival by selectively removing oxidatively damaged proteins, yet its precise molecular mechanisms and role in redox adaptation remain incompletely understood. This study aimed to elucidate the function of CMA in regulating oxidative stress resistance in gastric cancer (GC) cells, focusing on the LAMP2A-DJ-1 regulatory axis. LAMP2A expression was assessed in GC tissues and cell lines via immunohistochemistry, qPCR, and western blot. Oxidative stress models were established using hydrogen peroxide (H₂O₂). Genetic manipulation of LAMP2A was performed to evaluate its impact on cell proliferation, apoptosis, and CMA substrate recognition. Protein interactions were examined by co-immunoprecipitation and immunofluorescence. We found that LAMP2A was upregulated in GC and further induced by oxidative stress. Knockdown of LAMP2A impaired CMA activity, sensitizing GC cells to H₂O₂-induced apoptosis. DJ-1, an antioxidant protein, was identified as a CMA substrate containing a conserved KFERQ-like motif. Oxidative stress enhanced DJ-1-LAMP2A interaction and promoted their lysosomal colocalization. LAMP2A deficiency led to accumulation of hyperoxidized DJ-1, concomitant with upregulation of pro-apoptotic BAX and downregulation of anti-apoptotic Bcl-2. We identify hyperoxidized DJ-1 as a novel CMA substrate and demonstrate that LAMP2A-dependent clearance of oxidized DJ-1 constitutes a key adaptive mechanism that maintains redox homeostasis and promotes survival in gastric cancer cells under oxidative stress. - Source: PubMed
Publication date: 2026/05/15
Le ShuangshuangGuo TongtongYang MengTang TianjuanLiu ZhijieZheng YangPang Maogui