p47 phox (Phospho-Ser345) Antibody
- Known as:
- p47 phox (Phospho-Ser345) Antibody
- Catalog number:
- 11811
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Signalway
- Gene target:
- p47 phox (Phospho-Ser345) Antibody
Related genes to: p47 phox (Phospho-Ser345) Antibody
- Gene:
- NCF1 NIH gene
- Name:
- neutrophil cytosolic factor 1
- Previous symbol:
- -
- Synonyms:
- p47phox, NOXO2, NCF1A, SH3PXD1A
- Chromosome:
- 7q11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1989-05-25
- Date modifiied:
- 2019-04-23
- Gene:
- NCF2 NIH gene
- Name:
- neutrophil cytosolic factor 2
- Previous symbol:
- -
- Synonyms:
- p67phox, NOXA2
- Chromosome:
- 1q25.3
- Locus Type:
- gene with protein product
- Date approved:
- 1989-05-25
- Date modifiied:
- 2019-04-23
- Gene:
- NCF4 NIH gene
- Name:
- neutrophil cytosolic factor 4
- Previous symbol:
- -
- Synonyms:
- p40phox, SH3PXD4
- Chromosome:
- 22q12.3
- Locus Type:
- gene with protein product
- Date approved:
- 1996-06-19
- Date modifiied:
- 2019-04-23
Related products to: p47 phox (Phospho-Ser345) Antibody
Related articles to: p47 phox (Phospho-Ser345) Antibody
- Chronic granulomatous disease (CGD) is an inborn error of immunity caused by genetic defects in the nicotinamide adenine dinucleotide phosphate oxidase complex, resulting in recurrent severe infections and excessive inflammatory responses. CGD is inherited in X-linked recessive and autosomal recessive patterns. X-linked variants occur in the gene, whereas autosomal recessive variants are found in the , and genes. - Source: PubMed
Publication date: 2026/03/25
Thawabteh Fatima Az-ZahraAbu Rmilah SedrahSiaj AyaAbu Khdair RawanAdwan Rabee - Chronic granulomatous disease (CGD) is a rare inborn error of immunity caused by defects in components of the NADPH oxidase that impair the elimination of infectious microorganisms. Individuals affected by CGD become more susceptible to recurrent and severe infections. Six male patients from Southern Brazil were clinically and genetically analyzed through data collection from medical records and massively parallel sequencing by a panel for the following genes: CYBB, CYBA, NCF1, NCF2, and NCF4 and whole genome sequencing analysis. The gene-scan technique was used to identify the GT deletion in NCF1. The most common affected organs were the lungs, skin, and lymph nodes; the most common clinical manifestations were recurrent pneumonia, cutaneous involvement, lymph node manifestations, and failure to thrive. Four patients were identified with variants in CYBB: p.Cys257Ser, which is novel; p.Cys257Arg; p.Arg157Ter; and p.Trp483Ter. Both missense variants damage the loop E in gp91, a region with functional and structural relevance for the protein. Functional studies show the expression absence of the protein in patients with the variant p.Arg157Ter. The variant p.Trp483Ter is predicted to undergo nonsense mRNA-mediated decay. The GT deletion in NCF1 was identified in two siblings from consanguineous parents: one homozygous and the other apparently heterozygous for the deletion, both with a clinical diagnosis of CGD. Variant analysis in this gene is particularly challenging due to the presence of pseudogenes. A hypothesis for this genotypic discrepancy is the occurrence of a second type of pseudogene lacking the GT deletion, which may have arisen in one parent and been transmitted to the patient observed as heterozygous, being misinterpreted in the analyses as a functional NCF1 sequence. - Source: PubMed
da Rosa Leonardo Martinelloda Rosa Martha BraunWilson Mariana de Sampaio Leite JobimSchwartz Ida Vanessa DoederleinSperb-Ludwig Fernanda
- Source: PubMed
- Oxidative stress is implicated in various diseases, and the NADPH oxidase enzyme complex (NOX) is a significant source of reactive oxygen species (ROS). Research linking genetic polymorphisms to enzyme activity has produced conflicting results. We aimed to establish a robust protocol to assess NOX activity under highly standardized conditions and correlate these measurements with genetic polymorphisms catalogued by the 1000 Human Genome Project and the HapMap Project. Lymphoblastoid cell lines (LCLs) served as a model system with samples from healthy participants from three Caucasian populations. NOX activity stimulated by phorbol 12-myristate 13-acetate was measured using chemiluminescence in 290 LCLs (198 in a training and 92 in a test set) through a series of multiply repeated measurements per LCL comprising in total over 1,500 NOX activity assessments. The association between NOX activity and single nucleotide polymorphisms (SNPs) in the NOX subunit genes , , , , and was subsequently examined. Out of 651 valid polymorphic markers, 308 had a minor allele frequency of ≥ 5%, and 15 SNPs showed a statistically significant correlation with NOX activity in the training set. However, these 15 associations were not confirmed in the test set (all ≥ 0.1). Additional analyses treating all 290 LCLs as a single cohort yielded three associations at < 0.01, i.e. rs1017828, rs191081238, and rs4821544. However, statistical significance could not be called for any of these genetic markers upon adjustment for multiple testing, regardless whether a co-dominant, dominant or recessive allelic effect was assumed. Our results do not support a reproducible impact of common genetic diversity in NOX subunits on the enzyme activity in LCLs of subjects of Caucasian origin. This study represents the largest evaluation concerning relationships between NOX genetic variants and enzyme activity to date. - Source: PubMed
Publication date: 2025/10/07
Takacova TanaSchirmer Markus Anton - The aim of this research was to prospectively evaluate the impact of NOX2 gene expression profile (including NCF1, NCF2 and NCF4 genes) in peripheral blood mononuclear cells (PBMCs) on immune signatures, clinical characteristics and responsiveness to anti-TNF treatment in RA patients. Blood specimens were collected from 31 rheumatoid arthritis (RA) patients and 25 healthy controls, and 16 RA patients were followed at two timepoints during anti-TNF treatment. mRNA expression levels of selected genes and immunoregulatory cytokines concentrations were determined. We observed the significant upregulation of NCF4 and CD14 expression in RA group. The mRNA levels of NCF1 and CD14 positively correlated both in groups of RA patients and healthy controls. NOX2 gene expression profile was not associated with anti-TNF responsiveness, nor with RA clinical features. TNFα inhibition has not influenced NOX2 expression either. Notably, this study indicate the novel links between expression levels of NCF1 and monocyte differentiation antigen CD14. - Source: PubMed
Publication date: 2024/12/04
Wysocki TomaszWajda AnnaKmiołek TomaszWroński JakubRoszkowska MagdalenaOlesińska MarzenaParadowska-Gorycka Agnieszka