ZCCHC17 Antibody
- Known as:
- ZCCHC17 Antibody
- Catalog number:
- GWB-MM395H
- Product Quantity:
- 50ug
- Category:
- -
- Supplier:
- GenWay
- Gene target:
- ZCCHC17 Antibody
Related genes to: ZCCHC17 Antibody
- Gene:
- ZCCHC17 NIH gene
- Name:
- zinc finger CCHC-type containing 17
- Previous symbol:
- -
- Synonyms:
- PS1D, HSPC251, pNO40
- Chromosome:
- 1p35.2
- Locus Type:
- gene with protein product
- Date approved:
- 2005-12-01
- Date modifiied:
- 2016-02-12
Related products to: ZCCHC17 Antibody
Related articles to: ZCCHC17 Antibody
- Polycystic ovary syndrome (PCOS) affects 11%-13% of reproductive-age women worldwide and is pathologically associated with granulosa cell dysfunction. This study employed transcriptome sequencing of granulosa cells from PCOS patients and non-PCOS controls, followed by Gene Ontology, Kyoto Encyclopedia of Genes and Genomes, and Gene Set Enrichment Analysis. Key differentially expressed genes were validated by quantitative real-time PCR. Transcriptome analysis identified 157 upregulated and 71 downregulated mRNAs in PCOS granulosa cells, with enrichment in PI3K-Akt, MAPK, and TGF-beta signaling pathways. Six genes-NPTX2, FN1, CCN1, IDH1, ZCCHC17, and CREG1-were confirmed by qRT-PCR. Protein-protein interaction network analysis identified FN1 as a central hub gene. FN1 knockdown in KGN cells suppressed proliferation, induced apoptosis, and caused G1 phase arrest, accompanied by reduced Akt phosphorylation and altered expression of cyclin D1, p21, and p27. These findings suggest a potential association between FN1 and granulosa cell proliferative dysregulation in PCOS, warranting validation in primary cells and models. - Source: PubMed
Publication date: 2026/04/24
Zhou KanHan WenquanWang QijieZhang YuWang Jiao - Epileptic activity and neuronal excitability have been reported in the setting of Alzheimer's disease (AD), and may be linked to disease progression and severity. A shift in the excitation/inhibition balance to favor a more excitatory-dominant outcome appears to underlie the overall hyperactivity, with key mechanisms known to regulate excitatory and inhibitory neurotransmission in the brain being primarily affected. Synaptic dysfunction is a critical event in AD pathogenesis. Recent research suggests that the zinc finger protein, ZCCHC17 (Zinc Finger CCHC-Type Containing 17), serves as a potential master regulator of synaptic dysfunction in AD, with expression significantly reduced in the AD brain prior to gliosis and neuronal loss. Reduced levels of ZCCHC17 have been shown to lead to abnormal RNA processing and neuronal hyperexcitability. This review examines the specific role of ZCCHC17 in the AD brain, and discusses how ZCCHC17 may regulate mechanisms that underlie neuronal hyperexcitability. New insight into synaptic regulators of disease may contribute to improvements in early-stage diagnostics and interventions, and may better guide therapeutic approaches aimed at rescuing synaptic dysfunction in the prodromal stages of AD. - Source: PubMed
Publication date: 2026/02/10
Klub Brittany ATeich Andrew FCortese Giuseppe P - Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by abnormal social interactions, verbal communication difficulties, and restricted repetitive behaviors. Identifying the underlying genetic factors is crucial because of the complex genetic and environmental etiology. In this study, we performed whole-exome sequencing (WES), whole-genome sequencing (WGS), and array comparative genomic hybridization (aCGH) of four Iranian families with ASD-related conditions to identify novel genomic alterations. Five previously undescribed mutations were identified in these families. Family 1: A homozygous 290.7 kb deletion CNV (chr8:103,652,204-103942926; hg38) encompassing exons 2-16 of RIMS2 (NM_001348484), confirmed in a 7-year-old male proband with developmental delay and cone-rod synaptic disorder. Family 2: A heterozygous nonsense mutation in FOXG1 (NM_005249.5:c.839C > A; p.Ser280Ter) in a 6-year-old female with Rett-like features, resulting in a truncated protein lacking corepressor domains. Family 3: A splice donor site mutation in AUTS2 (NM_015570.4:c.742 + 1G > C) in a 10-year-old female with ASD and Attention-deficit/hyperactivity disorder, generating a frameshift and premature stop codon affecting mRNA-binding functionality. Family 4: A heterozygous nonsense mutation in ZCCHC17 (NM_016505.4:c.220C > T; p.Arg74Ter) and a splicing variant in SPTBN5 (NM_016642.4:c.3470 + 2T > A) in two male siblings with ASD were predicted to result in truncated proteins and aberrant splicing. Pathogenicity was supported through in silico analyses and structural modeling using I-TASSER, and segregation was confirmed using Sanger sequencing. This study highlights the genetic diversity of ASD and underscores the importance of advanced sequencing technologies in identifying novel mutations. Our findings contribute to the growing body of knowledge regarding the genetic basis of ASD, paving the way for personalized treatment strategies and early diagnosis. - Source: PubMed
Publication date: 2025/08/16
Mirahmadi MaryamKahani Seyyed MohammadSharifi-Zarchi AliFirouzabadi Saghar GhasemiBehjati FarkhondehGarshasbi Masoud - ZCCHC17 is a master regulator of synaptic gene expression and has recently been shown to play a role in splicing of neuronal mRNA. We previously showed that ZCCHC17 protein declines in Alzheimer's disease (AD) brain tissue before there is significant gliosis and neuronal loss, that ZCCHC17 loss partially replicates observed splicing abnormalities in AD brain tissue, and that maintenance of ZCCHC17 levels is predicted to support cognitive resilience in AD. Here, we assessed the functional consequences of reduced ZCCHC17 expression in primary cortical neuronal cultures using siRNA knockdown. Consistent with its previously identified role in synaptic gene expression, loss of ZCCHC17 led to loss of synaptic protein expression. Patch recording of neurons shows that ZCCHC17 loss significantly disrupted the excitation/inhibition balance of neurotransmission, and favored excitatory-dominant synaptic activity as measured by an increase in spontaneous excitatory post synaptic currents and action potential firing rate, and a decrease in spontaneous inhibitory post synaptic currents. These findings are consistent with the hyperexcitable phenotype seen in AD animal models and in patients. We are the first to assess the functional consequences of ZCCHC17 knockdown in neurons and conclude that ZCCHC17 loss partially phenocopies AD-related loss of synaptic proteins and hyperexcitability. - Source: PubMed
Cortese Giuseppe PBartosch Anne Marie WXiao HarrisonGribkova YelizavetaLam Tiffany GArgyrousi Elentina KSivakumar SharanyaCardona ChristopherTeich Andrew F - ZCCHC17 is a putative master regulator of synaptic gene dysfunction in Alzheimer's disease (AD), and ZCCHC17 protein declines early in AD brain tissue, before significant gliosis or neuronal loss. Here, we investigate the function of ZCCHC17 and its role in AD pathogenesis using data from human autopsy tissue (consisting of males and females) and female human cell lines. Co-immunoprecipitation (co-IP) of ZCCHC17 followed by mass spectrometry analysis in human iPSC-derived neurons reveals that ZCCHC17's binding partners are enriched for RNA-splicing proteins. ZCCHC17 knockdown results in widespread RNA-splicing changes that significantly overlap with splicing changes found in AD brain tissue, with synaptic genes commonly affected. ZCCHC17 expression correlates with cognitive resilience in AD patients, and we uncover an APOE4-dependent negative correlation of ZCCHC17 expression with tangle burden. Furthermore, a majority of ZCCHC17 interactors also co-IP with known tau interactors, and we find a significant overlap between alternatively spliced genes in ZCCHC17 knockdown and tau overexpression neurons. These results demonstrate ZCCHC17's role in neuronal RNA processing and its interaction with pathology and cognitive resilience in AD, and suggest that the maintenance of ZCCHC17 function may be a therapeutic strategy for preserving cognitive function in the setting of AD pathology. - Source: PubMed
Publication date: 2024/01/17
Bartosch Anne Marie WYouth Elliot H HHansen ShaniaWu YiyangBuchanan Heather MKaufman Maria EXiao HarrisonKoo So YeonAshok ArchanaSivakumar SharanyaSoni Rajesh KDumitrescu Logan CLam Tiffany GRopri Ali SLee Annie JKlein Hans-UlrichVardarajan Badri NBennett David AYoung-Pearse Tracy LDe Jager Philip LHohman Timothy JSproul Andrew ATeich Andrew F