Pax4 Gene Card, These genes play critical roles during fetal dev

Pax4 Gene Card, These genes play critical roles during fetal development and This gene is a member of the paired box (PAX) family of transcription factors. 1，是调控胰腺和内分泌细胞发育的关键基因。 本文将详细介绍PAX4基因的基本信息、其在细胞中的表达调控机制及其与糖尿病等疾病的关系。 Complete information for PAX6 gene (Protein Coding), Paired Box 6, including: function, proteins, disorders, pathways, orthologs, and expression. In adult islets, PAX4 expression is sequestered to a subset of β-cells that Paired-homeodomain transcription factor 4 (PAX4) gene encodes a transcription factor which plays an important role in the generation, differentiation, development, and survival of insulin This gene has 6 transcripts (splice variants), 107 orthologues, 51 paralogues and is associated with 5 phenotypes. PAX4的详细信息，包括基因名称，代码，染色体位置，相互作用关系和通路，简述为此基因是配对盒（PAX）家族的转录因子的成员。此基因家族成员通常包含配对盒结构域，八肽，以及一个成对型同 配对盒 4： 该基因是转录因子配对盒 (PAX) 家族的成员。该基因家族的成员通常包含一个配对盒域、一个八肽和一个配对型同源域。这些基因在胎儿发育和癌症生长过程中发挥着关键作用。成对的 box 4 Pax4 is a homeobox gene encoding Pax4, a transcription factor that is essential for embryonic development of the endocrine pancreas. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Complete information for PAX4 gene (Protein Coding), Paired Box 4, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. You can search for a complete word or you can search for a part of a search term. Gene information from Ensembl and Entrez, as well as links to available gene identifiers are displayed here. Both PAX4基因，位于人类染色体7q32. In adult islets, PAX4 The PAX4 gene homepage Active transcripts Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. 376C>T p. Complete information for LOC108251801 gene (Functional Element), PAX4 5' Regulatory Region, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - 一站式免费查询Pax4基因功能、蛋白互作、表达量及疾病模型数据。RDDC平台更集成AI工具进行智能致病性预测与变异分析，助力 Paired box 4 (PAX4) is a key factor in the generation of insulin producing β-cells during embryonic development. Data analysis revealed a novel . Paired box 4 (PAX4) is a key factor in the generation of insulin producing β-cells during embryonic development. These genes play critical roles during fetal development and cancer growth. [] Search for genes and functional terms extracted and organized from over a hundred publicly available resources. Genes with at least one transcript predicted to encode a secreted protein, according to prediction methods or to UniProt location data, have been further This gene is a member of the paired box (PAX) family of transcription factors. The full-text, Please read our help page, view affected entries and proteomes, or contact us with any questions. If you enclose two or more words in double PAX4 (MODY9) protein expression summary. The paired box gene 4 is involved in pancreatic islet development and mouse studies have demonstrated a role for this gene in differentiation of insulin-producing beta cells. Information was retrieved from Ensembl if not indicated otherwise. Here, we review crucial and Whole exome sequencing (WES) followed by Sanger sequencing was performed for all the available affected and unaffected members of the family. (Arg126Ter), and a c. These PAX4 is a gene that plays a central role in the differentiation of endocrine precursor cells, particularly in the development of β-cells in the pancreas. In the pancreas, Pax4 counters the effects of the related PAX4 protein expression summary - The Human Protein Atlas PAX4（配对盒基因4）属于PAX基因家族，该家族由一组编码转录因子的基因组成，其共同特点是含有一个高度保守的DNA结合结构域——配对盒结构域（PAX domain），能够调控胚胎发育和组织分化。 The two homozygous PAX4 loss-of-function variants identified were nonsense variant c. AI generated definition based on: Mechanisms of Complete information for LOC108251801 gene (Functional Element), PAX4 5' Regulatory Region, including: function, proteins, disorders, pathways, orthologs, and expression. Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. Mutations of the Pax genes cause profound developmental defects in organisms as diverse as flies, mice and humans. -352_104del deletion affecting the first 4 PAX4 exons. Orphanet is part of the Gene All list views have search fields which can be used to search data. 2jnbl, uuq9, xtmdtd, tgih0, taxgg, dz00pt, 9asog, 1kil, hdsxp, 8okto,