ArticleProceedings of the National Academy of Sciences of the United States of America1995
Metaxin, a gene contiguous to both thrombospondin 3 and glucocerebrosidase, is required for embryonic development in the mouse: implications for Gaucher disease.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 64 citations in OpenAlex.
- Hidden Glutathione Transferases in the Human Genome.Biomolecules · 2023Article
- Exploring genetic modifiers of Gaucher disease: The next horizon.Human mutation · 2018Review
- Mapping the Interactome of a Major Mammalian Endoplasmic Reticulum Heat Shock Protein 90.PloS one · 2017Article
- Detailed analysis of the human mitochondrial contact site complex indicate a hierarchy of subunits.PloS one · 2015Article
- Nfatc2 is a primary response gene of Nell-1 regulating chondrogenesis in ATDC5 cells.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2011Article
- The Neurospora crassa TOB complex: analysis of the topology and function of Tob38 and Tob37.PloS one · 2011Article
- Metaxin deficiency alters mitochondrial membrane permeability and leads to resistance to TNF-induced cell killing.Protein & cell · 2010Article
- Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease: an analysis of 798 patients from the ICGG Gaucher Registry.Journal of inherited metabolic disease · 2008Article
- Effective cell and gene therapy in a murine model of Gaucher disease.Proceedings of the National Academy of Sciences of the United States of America · 2006Article
- Mice with a disruption of the thrombospondin 3 gene differ in geometric and biomechanical properties of bone and have accelerated development of the femoral head.Molecular and cellular biology · 2005Article
- Disclosing hidden transcripts: mouse natural sense-antisense transcripts tend to be poly(A) negative and nuclear localized.Genome research · 2005Article
- A novel alteration in metaxin 1, F202L, is associated with N370S in Gaucher disease.Journal of human genetics · 2004Article
- Signals and receptors--the translocation machinery on the mitochondrial surface.Journal of bioenergetics and biomembranes · 2000Review
- Elucidating tumor necrosis factor signaling pathway using a functional gene identification approach.Immunologic research · 2000Review
- Mice with type 2 and 3 Gaucher disease point mutations generated by a single insertion mutagenesis procedure.Proceedings of the National Academy of Sciences of the United States of America · 1998Article
- Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease.Genome research · 1997Article
- D409H/D409H genotype in Gaucher-like disease.Journal of medical genetics · 1997Article
- SP1-binding elements, within the common metaxin-thrombospondin 3 intergenic region, participate in the regulation of the metaxin gene.Nucleic acids research · 1996Article
- The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease.Journal of medical genetics · 1996Article
- A tightly organized, conserved gene cluster on mouse chromosome 3 (E3-F1).Mammalian genome : official journal of the International Mammalian Genome Society · 1995Article
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8 authors at 2 institutions in 2 countries.
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Abstract
We have identified a murine gene, metaxin, that spans the 6-kb interval separating the glucocerebrosidase gene (GC) from the thrombospondin 3 gene on chromosome 3E3-F1. Metaxin and GC are transcribed convergently; their major polyadenylylation sites are only 431 bp apart. On the other hand, metaxin and the thrombospondin 3 gene are transcribed divergently and share a common promoter sequence. The cDNA for metaxin encodes a 317-aa protein, without either a signal sequence or consensus for N-linked glycosylation. Metaxin protein is expressed ubiquitously in tissues of the young adult mouse, but no close homologues have been found in the DNA or protein data bases. A targeted mutation (A-->G in exon 9) was introduced into GC by homologous recombination in embryonic stem cells to establish a mouse model for a mild form of Gaucher disease. A phosphoglycerate kinase-neomycin gene cassette was also inserted into the 3'-flanking region of GC as a selectable marker, at a site later identified as the terminal exon of metaxin. Mice homozygous for the combined mutations die early in gestation. Since the same amino acid mutation in humans is associated with mild type 1 Gaucher disease, we suggest that metaxin protein is likely to be essential for embryonic development in mice. Clearly, the contiguous gene organization at this locus limits targeting strategies for the production of murine models of Gaucher disease.
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