C6orf204
- Known as:
- C6orf204
- Catalog number:
- 003226A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C6orf204
Related genes to: C6orf204
- Gene:
- CEP85L NIH gene
- Name:
- centrosomal protein 85 like
- Previous symbol:
- C6orf204
- Synonyms:
- NY-BR-15, bA57K17.2
- Chromosome:
- 6q22.31
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-26
- Date modifiied:
- 2016-03-30
Related products to: C6orf204
Related articles to: C6orf204
- Lissencephaly type 10 (LIS10, OMIM#618873) is a rare neurodevelopmental disorder characterized by posterior-predominant pachygyria/agyria or subcortical band heterotopia on brain imaging. Clinically, affected individuals exhibit a range of developmental delays, including intellectual disability, language impairment, and frequently intractable epilepsy. LIS10 results from pathogenic variants in the centrosomal gene CEP85L. Peripheral blood mononuclear cells obtained from a LIS10 patient were reprogrammed into induced pluripotent stem cells (iPSC; line KCGMHi001-A) using Sendai virus. This iPSC model serves as a valuable resource for future mechanistic studies and therapeutic development for LIS10. - Source: PubMed
Publication date: 2026/04/27
Hou Pei-ShanLim Sheng-JyeLu Huai-EnTsai Meng-Han - Defective neuronal migration causes lissencephaly (LIS), a neurodevelopmental disorder (NDD) with a smooth cerebral surface and abnormal cortical thickness. Variants in CEP85L are linked to posterior predominant LIS, but the phenotype and genotype are unclear. Three new unrelated cases of CEP85L-associated LIS are presented, including the first prenatal diagnosis and a mosaic variant. Clinical, neuroimaging, and genetic analyses were recorded. Data from 29 previously reported individuals was used in a comprehensive literature review. Human phenotype ontology (HPO) terms were used to annotate phenotypic features, and American College of Medical Genetics and Genomics (ACMG) guidelines were used to evaluate variants. All postnatal individuals had variable NDD. Global developmental delay was observed in 71 % (22/31), speech or motor delay in 54 % (11/31 and 6/31, respectively), and intellectual disability in 74 % (23/31) of cases. Focused and generalized-onset seizures occurred in 90 % (28/31). Brain magnetic resonance imaging (MRI) revealed predominantly posteriorly predominant LIS in all evaluated individuals, with 55 % (17/31) of cases also exhibiting subcortical band heterotopia (SBH). A total of 18 different CEP85L variants were identified among all individuals, all clustering in a highly conserved N-terminal region between amino acids 1 and 103. These included 10 missense mutations, five splice-site alterations, two start-loss variants, and one stop variant. Nine de novo variants, 10 mother-father variants, and 13 variants with unknown inheritance. Genotype-phenotype correlations in CEP85L-associated LIS show that stronger splice and germline variants often cause more severe symptoms than mosaic variants. To reduce confusion caused by alternative CEP85L transcripts, we recommend NM_001042475 for variant interpretation. These findings improve this disorder's genetic diagnostics and counseling framework. - Source: PubMed
Publication date: 2025/08/22
Schumann IsabellAbou Jamra RamiJauss Robin-TobiasKarnstedt MaikeSpecht UlrichZacher PiaWoermann FriedrichYaron YuvalPopp Bernt - The developmental process of skeletal muscle involves a wide variety of regulatory factors. However, little has been reported regarding the function and mechanisms of enhancer regulation in buffalo skeletal muscle growth and development. In this study, we discovered an enhancer that affects the buffalo skeletal muscle growth and development, which we named Enh67. Experimental results from CCK-8, EdU, qPCR, and Western blot assays indicated that Enh67 inhibits the proliferation of buffalo muscle stem cells. Immunofluorescence staining, qPCR, and Western blot results showed that Enh67 promotes the differentiation of buffalo muscle stem cells. Finally, we determined through 3C and qPCR assays that Enh67 targets CEP85L. Our findings not only enrich the regulatory factors involved in buffalo skeletal muscle growth and development but also provide potential target candidates for improving meat production and treating muscle development-related diseases in livestock. - Source: PubMed
Publication date: 2025/06/11
Duan SaixingLiu XingyuLiu WenjingDou YutingXu GaoxiaoZhang FengGeng KuanXiong QiChen Mengjie - Primary open-angle glaucoma (POAG) is the leading cause of irreversible vision loss. However, its genetic risk factors, such as the vascular hypothesis of POAG, remain unclear. Here, we aimed to explore the genetic associations between mean ocular perfusion pressure (MOPP) and POAG. We performed genome-wide analysis with gene-based analysis from the UK Biobank (N = 459,195), which includes genetic data and ocular phenotypes. Bidirectional two-sample Mendelian randomisation (MR), multivariable MR, and mediation analysis were conducted using summary statistics from a previous meta-analysis of genome-wide association studies (N = 216,257). - Source: PubMed
Publication date: 2025/03/24
Jin HeejinSeo Je HyunLee YoungWon Sungho - Lissencephaly is a rare brain malformation characterized by abnormal neuronal migration during cortical development. In this study, we performed a comprehensive genetic analysis using next-generation sequencing in 12 unsolved Japanese lissencephaly patients, in whom PAFAH1B1, DCX, TUBA1A, and ARX variants were excluded using the Sanger method. Exome sequencing (ES) was conducted on these 12 patients, identifying pathogenic variants in CEP85L, DYNC1H1, LAMC3, and DCX in four patients. Next, we performed genome sequencing (GS) on eight unsolved patients, and structural variants in PAFAH1B1, including an inversion and microdeletions involving several exons, were detected in three patients. Notably, these microdeletions in PAFAH1B1 could not to be detected by copy number variation (CNV) detection tools based on the depth of coverage methods using ES data. The density of repeat sequences, including Alu sequences or segmental duplications, which increase the susceptibility to structural variations, is very high in some lissencephaly spectrum genes (PAFAH1B1, TUBA1A, DYNC1H1). These missing CNVs were due to the limitations of detecting repeat sequences in ES-based CNV detection tools. Our study suggests that a combined approach integrating ES with GS can contribute to a higher diagnostic yield and a better understanding of the genetic landscape of the lissencephaly spectrum. - Source: PubMed
Publication date: 2024/08/09
Furukawa ShogoKato MitsuhiroIshiyama AkihikoKumada TomohiroYoshida TakeshiTakeshita EriChong Pin FeeYamanouchi HideoKotake YukoKyoda TakayoshiNomura ToshihiroMiyata YohaneNakashima MitsukoSaitsu Hirotomo