Ask about this productRelated genes to: LRRC56 antibody
- Gene:
- LRRC56 NIH gene
- Name:
- leucine rich repeat containing 56
- Previous symbol:
- -
- Synonyms:
- FLJ00101, DKFZp761L1518
- Chromosome:
- 11p15.5
- Locus Type:
- gene with protein product
- Date approved:
- 2005-10-18
- Date modifiied:
- 2014-11-19
Related products to: LRRC56 antibody
Related articles to: LRRC56 antibody
- To investigate the subtype distribution, clinical characteristics, and genetic causes in a single-center cohort of Fetal Left-right asymmetry anomalies (FLRAA). - Source: PubMed
Qiu XiaomeiLei Tingying - Motile ciliopathies represent a group of disorders caused by impaired motility of cilia and flagella, resulting in clinical manifestations such as laterality defects, asthenospermia, chronic respiratory infections, and hydrocephalus. Although nearly 53 genes have been implicated, the genetic etiology remains unresolved in approximately 30% of cases, and the regulatory mechanisms of motile ciliogenesis are still incompletely understood. - Source: PubMed
Publication date: 2025/12/17
Xie Xiao-HuiGu HengYang Jun-LinYuan Zhuang-ZhuangQin Ke-LeTan Zhi-Ping - Primary ciliary dyskinesia (PCD) is a genetically heterogeneous motile ciliopathy characterized by chronic respiratory disease, laterality defects, hydrocephalus and infertility, caused by impaired function of motile cilia. LRRC56 has recently emerged as a novel PCD candidate gene, but its role in vertebrate cilia remains poorly understood. Here, we used Xenopus laevis multiciliated cells, targeted knockdown and in vivo imaging to investigate lrrc56 function, and combined these studies with in vivo affinity purification-mass spectrometry (AP-MS) to define its interactome. We show that loss of lrrc56 causes specific depletion of outer dynein arms (ODAs) from the distal axoneme. In vivo AP-MS revealed that Lrrc56 binds the ODA docking complex components, including Odad3. Consistently, lrrc56 knockdown also led to distal loss of Odad3. Moreover, we show that disease-associated variants in LRRC56 and ODAD3 disrupted their localization and interaction, pointing to a shared functional pathway. Our work demonstrates that lrrc56 is a critical regulator of distal ODAs and ODA docking complex deployment and provides new mechanistic insight into PCD, advancing our broader understanding of motile cilia biology. - Source: PubMed
Publication date: 2025/12/19
Reyes-Nava Nayeli GLee ChanjaePapoulas OpheliaHong JuyeonMarcotte Edward MWallingford John B - Developmental Dyslexia (DD) and Attention-deficit/hyperactivity disorder (ADHD) are neurodevelopmental disorders that often coexist and share complex genetic underpinnings. Our case study integrates psychological assessments and whole exome sequencing to explore the genetic basis of DD and ADHD co-occurrence in a single proband (a nine-year-old female born to healthy) from a consanguineous Pakistani family. We present a proband with symptoms of impulsivity, inattention, and severe hyperactive behavior, along with speech impairment and moderate learning disabilities. The study identified non-synonymous variations in genes associated with both disorders, such as , , and , , , , , and . Network analysis revealed key pathways like , , and shedding light on potential mechanisms underlying the observed phenotypes. The study emphasizes the complexity of these conditions and underscores the need for personalized interventions to address diagnosis challenges. - Source: PubMed
Publication date: 2024/09/22
Haider ShujjahMondal TanmoyNawaz IrumAzam MaleehaGhosh Somiranjan - Primary ciliary dyskinesia is a genetically heterogeneous motile ciliopathy characterized chronic respiratory disease, laterality defects, hydrocephalus, and infertility, caused by impaired function of motile cilia. has recently emerged as a novel PCD candidate gene, but its role in vertebrate cilia remains poorly understood. Here, we used multiciliated cells, targeted knockdown, and imaging to investigate function. We show that loss of causes specific depletion of outer dynein arms (ODAs) from the distal axoneme. affinity purification mass spectrometry revealed that Lrrc56 binds the ODA docking complex components, including Odad3. Consistently, knockdown also led to distal loss of Odad3. Moreover, we show that disease-associated variants in and disrupted their localization and interaction, pointing to a shared functional pathway. Our work demonstrates that is a critical regulator of distal ODAs and ODA docking complex deployment and provides new mechanistic insight into how mutations contribute to PCD. - Source: PubMed
Publication date: 2025/07/03
Reyes-Nava Nayeli GLee ChanjaePapoulas OpheliaHong JuyeonMarcotte Edward MWallingford John B