AP3B1
- Known as:
- AP3B1
- Catalog number:
- 001726A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- AP3B1
Related genes to: AP3B1
- Gene:
- AP3B1 NIH gene
- Name:
- adaptor related protein complex 3 subunit beta 1
- Previous symbol:
- -
- Synonyms:
- ADTB3A, HPS2
- Chromosome:
- 5q14.1
- Locus Type:
- gene with protein product
- Date approved:
- 2000-09-01
- Date modifiied:
- 2019-04-23
Related products to: AP3B1
Related articles to: AP3B1
- Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening condition that results from a severe inflammation caused by an exaggerated immune response. HLH may have a genetic cause affecting the proper function of cytotoxic immune cells or it canbe linked to other pathological settings including inborn errors of immunity, malignancies, autoinflammatory and autoimmune syndromes, metabolic diseases, or acquired immunodeficiencies. HLH due to a genetic error remains difficult to diagnose because anormal Natural Killer (NK) or cytotoxic T lymphocyte (CTL) function does not necessarily exclude a familial form of HLH affecting immune cells other than cytotoxic lymphocytes, or because patients with autoimmune or autoinflammatory syndromes can also fulfill the HLH criteria. In consequence, sensitive functional assays and assessment of the expression of proteins involved in lytic-granules exocytosis may be useful approaches for discriminating between familial forms of HLH from those where a genetic cause is not affecting cytotoxic cell function, or from acquired forms of HLH. - Source: PubMed
Publication date: 2026/07/03
Gutiérrez-Guerrero ArturoLugo-Reyes Saul OLópez-Rivera Daniela OliviaSánchez-Herrera JacquelineValenzuela-Vázquez LuceroEstevez-Mieres MercyNuñez Nuñez Maria EnriquetaBayardo-Gutiérrez BeatrizLona-Reyes Juan CarlosCruz-Osorio Rosa MargaritaSoto-Chavez VeronicaBedolla-Barajas MartínGutierrez-Hernández José AlonsoBarragan-Arevalo TaniaHidalgo-Martinez Maria FernandaGomez-Cardenas LilianaSierra-Muñoz DiegoPerea Alvarez SamanthaVenegas-Montoya EdnaStaines-Boone Aide TamaraZarate-Hernández Maria Del CarmenMiranda-Saavedra Vania MariaArce-Estrada Gabriel EmmanuelScheffler-Mendoza SelmaBustamante-Ogando Juan CarlosLlamas-Guillén Beatriz AdrianaRuiz-Fernández MiguelReynoso-Arenas Perla VeronicaFlores-Munguía Martín EduardoTorres-Lozano CarlosBonal-Pérez Miguel AngelMamani-Velásquez Estefany GracielaMartínez-Barricarte RubénRamírez-Uribe Rosa María NideshdaPastor NinaMartinez-Duncker IvanGaytan PaulYañez Jorge AYamazaki-Nakashimada Marco AntonioLenoir ChristelleLatour SylvainEspinosa Sara ElvaCruz-Munoz Mario Ernesto - - Source: PubMed
Baba NaomiElashy AhmedWegehaupt OliverZieger BarbaraFelek MelisaFerro MicolGilmour KimberlyFischer UteBorkhardt ArndtEhl StephanKoppstein DavidGhosh Sujal - Bothrops jararaca snake venom (BjV) contains toxins that both activate and inhibit blood coagulation and platelets, leading to consumption coagulopathy, thrombocytopenia, endothelial dysfunction, and secondary fibrinolysis in human and animal victims of snakebite. Herein, we aimed to investigate the in vitro coagulant activity of BjV in human, mouse, and rat plasmas. - Source: PubMed
Publication date: 2026/05/26
Torres Adrielly ViveirosPenas Picon Neusa TadeuFerreira de Oliveira NatachaSachetto Ana Teresa AzevedoThomazini Camila Martosde Albuquerque Cynthia ZaccaniniMattaraia Vânia Gomes de MouraSantoro Marcelo Larami - RNA-Sequencing (RNA-Seq) represents a powerful approach for discovering SNPs in coding regions (cSNPs) which can alter the amino acid sequence of the encoded proteins and have predicted deleterious effects in proteins, underlying disease susceptibility or resistance. RNA-Seq data from peripheral blood (PB) and ileocecal valve (ICV) samples collected from fourteen Holstein cattle with focal (N = 5) and diffuse (N = 5) paratuberculosis (PTB)-associated lesions and without lesions (N = 4) in gut tissues was used to identify deleterious cSNPs that were unique to each group of animals. PB and ICV samples from each animal were subjected to RNA extraction, library preparation, and paired-end RNA-Sequencing (RNA-Seq). The RNA-Seq reads were aligned against the bovine ARS-UCD1.2.109 reference genome using the STAR aligner generating an average of 21,331,835 and 19,506,829 uniquely mapped reads in the PB and ICV samples, respectively. SNP calling was performed on the RNA-Seq data of each group of animals using bcftools v1.11. To ensure high-confidence cSNP calls, highly stringent SNP filtering criteria were applied: minimum read depth (≥ 10), supporting reads for alternative allele (≥ 4), Phred score of the alternative allele (≥ 30), minor allele frequency (> 20%), maximum proportion of missing data per site (< 80%), and distance from indels (SNPs within 5 bp of insertions/deletions were excluded). From the 856, 625, and 603 identified cSNPs that were uniquely present in the transcriptome of the control cows and cows with focal and diffuse lesions, 31, 15, and 31 variants had predicted deleterious effects, respectively. The major histocompatibility complex II gene (BOLA) was the only candidate gene affected by different predicted deleterious cSNPs in the three groups of animals. Using the candidate genes, gene set enrichment analysis (GSEA) revealed distinct biological processes and metabolic pathways associated with each group of cows. Cows without lesions showed enrichment in 11 GO terms and 6 metabolic pathways, particularly involving BOLA, AP3B1, and CHGA genes. These leading-edge genes are linked to antigen processing and presentation, phagosome maturation, lysosome function, and intestinal immune homeostasis. Cows with focal lesions had enrichment in the negative regulation of apoptosis and cellular metabolism with two leading-edge genes, ORMD1 and KANK2. Predicted deleterious cSNPs in these leading-edge genes may help the host modulate immune responses and maintain low bacterial load during the subclinical stage of MAP infection. Finally, cows with diffuse lesions showed enrichment in 27 metabolic pathways, including Th1/Th2 cell differentiation, antigen presentation, bile secretion, and antifolate resistance. Further validation of the cSNPs and candidate genes in additional independent populations may lead to their use in SNP-based selection strategies for increasing resistance to MAP infection. - Source: PubMed
Publication date: 2026/01/26
Badia-Bringué GerardLam StephanieCánovas ÁngelaAlonso-Hearn Marta - Carcass traits are among the most critical production characteristics in broiler chickens. Therefore, the precise identification of genetic variants and candidate genes affecting these traits is highly valuable for enhancing breeding efficiency and overall productivity in poultry. In this study, a genome-wide association study (GWAS) was conducted to analyse seven carcass traits in 1 498 cocks from a Chinese indigenous yellow-feathered meat chicken population, which had been subjected to three generations of selective breeding for improved BW and feed conversion ratio. The assessing traits included breast muscle weight (BMW), BWs at 42 and 56 days (BW42, BW56), carcass weight (CW), eviscerated weight (EW), eviscerated weight with giblets (EWG), and leg weight (LW). Six significant single-nucleotide polymorphism (SNP) sites were identified by using the "Jingxin No. 1″ 55 K SNP microarray and bioinformatic analysis. These SNPs were annotated to six candidate genes on chromosomes 1, 2, 3, 4, 9, and Z, including SPHKAP, ALCAM, CMTM7, ADAT2, LIMCH1 and AP3B1, with the variant in the SPHKAP gene harboured a frameshift deletion in the coding region. Our study identified novel variants related to chicken carcass traits, which provide a new insight into the genetic mechanism of chicken carcass traits. These trait-associated genetic variants could facilitate the selection of more efficient broilers. - Source: PubMed
Publication date: 2025/12/23
Pan ZGeng HLi DCheng XLiu Y