mafb gene

      MAFB (gene) GudangMovies21 Rebahinxxi LK21

      Transcription factor MafB also known as V-maf musculoaponeurotic fibrosarcoma oncogene homolog B is a protein that in humans is encoded by the MAFB gene. This gene maps to chromosome 20q11.2-q13.1, consists of a single exon and spans around 3 kb.


      Function


      MafB is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The encoded nuclear protein represses ETS1-mediated transcription of erythroid-specific genes in myeloid cells.


      Clinical significance


      Mutations in the murine Mafb gene are responsible for the mutant mouse Kreisler (kr) that presents an abnormal segmentation of the hindbrain and exhibit hyperactive behavior, including head tossing and running in circles. This mice dies at birth due to renal failure whereas the Mafb -/- mice dies of central apnea.
      Recently, single-nucleotide polymorphisms (SNPs) near MAFB have been found associated with nonsyndromic cleft lip and palate. The GENEVA Cleft Consortium study, a genomewide association study involving 1,908 case-parent trios from Europe, the United States, China, Taiwan, Singapore, Korea, and the Philippines, first identified MAFB as being associated with cleft lip and/or palate with stronger genome-wide significance in Asian than European populations. The difference in populations could reflect variable coverage by available markers or true allelic heterogeneity. In mouse models, Mafb mRNA and protein were detected in both craniofacial ectoderm and neural crest-derived mesoderm between embryonic days 13.5 and 14.5; expression was strong in the epithelium around the palatal shelves and in the medial edge epithelium during palatal fusion. After fusion, Mafb expression was stronger in oral epithelium compared to mesenchymal tissue. In addition, sequencing analysis detected a new missense mutation in the Filipino population, H131Q, that was significantly more frequent in cases than in matched controls. The gene-poor regions either side of the MAFB gene include numerous binding sites for transcription factors that are known to have a role in palate development.


      References




      Further reading




      External links


      MAFB+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
      MAFB human gene location in the UCSC Genome Browser.
      MAFB human gene details in the UCSC Genome Browser.
      This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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    mafb gene

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    MAFB Gene - GeneCards | MAFB Protein | MAFB …

    Dec 25, 2024 · MAFB (MAF BZIP Transcription Factor B) is a Protein Coding gene. Diseases associated with MAFB include Multicentric Carpotarsal Osteolysis Syndrome and Duane Retraction Syndrome 3 With Or Without Deafness .

    Role of MafB in macrophages - PMC - PubMed Central (PMC)

    In 1994, the Mafb gene was first identified as the causative gene of behavioral defects from impaired inner ear development in Kreisler mice . Kataoka et al. also identified Mafb as a …

    MafB, a new Maf family transcription activator that can associate …

    We have identified a new member of the maf oncogene family and named it mafB. This gene is expressed in a wide variety of tissues and encodes a protein of 311 amino acids containing a …

    MAFB protein expression summary - The Human Protein Atlas

    Required for monocytic, macrophage, osteoclast, podocyte and islet beta cell differentiation. Involved in renal tubule survival and F4/80 maturation. Activates the insulin and glucagon …

    9935 - Gene ResultMAFB MAF bZIP transcription factor B

    MAFB gene suggest a role for the development of orofacial clefting in hispanic population. Identified previously unreported missense mutations clustering within a 51 base pair region of …

    MAFB MAF bZIP transcription factor B [ Homo sapiens (human) ]

    Mar 5, 2024 · The protein encoded by this gene is a basic leucine zipper (bZIP) transcription factor that plays an important role in the regulation of lineage-specific hematopoiesis. The …

    The immunomodulatory role of the MAFB gene in hepatocellular …

    Jan 20, 2025 · Gene Ontology (GO) annotation analysis of MAFB-related immunomodulators, chemokines, and receptors. The figure highlights the biological processes, cellular …

    MAFB - My Cancer Genome

    V-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) is a gene that encodes a transcription factor protein that functions in the regulation of lineage-specific …

    MafB - American Diabetes Association

    Feb 1, 2006 · Here, we show that MafB is an important regulator of glucagon gene expression. Thus, MafB was found to bind to and activate at conserved nucleotides −77 to −51 of the α-cell–specific promoter control element (termed …