Genomes and Genes
Gene Symbol: Hmbs
Description: hydroxymethylbilane synthase
Alias: PBGD, T25658, Ups, Uros1, porphobilinogen deaminase, PBG-D, pre-uroporphyrinogen synthase
- Glucose metabolism during fasting is altered in experimental porphobilinogen deaminase deficiencyMaria Collantes
MicroPET Research Unit, CIMA CUN, University of Navarra, Pamplona, Spain, Nuclear Medicine Department, Clinica Universidad de Navarra, Pamplona, Spain, Instituto de Investigación Sanitaria de Navarra IdiSNA, Pamplona, Spain
Hum Mol Genet 25:1318-27. 2016b>Porphobilinogen deaminase (PBGD) haploinsufficiency (acute intermittent porphyria, AIP) is characterized by neurovisceral attacks when hepatic heme synthesis is activated by endogenous or environmental factors including fasting...
- Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyriaChadi Homedan
UMR INSERM 1063, Département de Biochimie et Génétique and
Hum Mol Genet 24:5015-23. 2015..an autosomal dominant metabolic disease (MIM #176000), is due to a deficiency of hydroxymethylbilane synthase (HMBS), which catalyzes the third step of the heme biosynthetic pathway...
- The N-reductive system composed of mitochondrial amidoxime reducing component (mARC), cytochrome b5 (CYB5B) and cytochrome b5 reductase (CYB5R) is regulated by fasting and high fat diet in miceHeyka H Jakobs
Department of Pharmaceutical and Medicinal Chemistry, Christian Albrechts Universitat zu Kiel, Kiel, Germany
PLoS ONE 9:e105371. 2014..With this study we provide further evidence that the endogenous function of the mARC protein is linked with lipid metabolism. ..
- A porphobilinogen deaminase (PBGD) Ran-binding protein interaction is implicated in nuclear trafficking of PBGD in differentiating glioma cellsLior Greenbaum
Life Science Faculty, Bar Ilan University, Ramat Gan 52900, Israel
Oncogene 22:5221-8. 2003b>Porphobilinogen deaminase (PBGD) is a rate-limiting enzyme of the heme biosynthesis pathway, whose level is elevated in various human tumors...
- Helper-dependent adenoviral liver gene therapy protects against induced attacks and corrects protein folding stress in acute intermittent porphyria miceCarmen Unzu
Gene Therapy and Hepatology Area, Centre for Applied Medical Research, University of Navarra, 31008 Pamplona, Spain
Hum Mol Genet 22:2929-40. 2013..porphyria (AIP) is a hepatic metabolic disease that results from haplo-insufficient activity of porphobilinogen deaminase (PBGD)...
- GATA-1 self-association controls erythroid development in vivoRitsuko Shimizu
Graduate School of Comprehensive Human Sciences and Center for Tsukuba Advanced Research Alliance, University of Tsukuba, Tennoudai 1 1 1, Tsukuba 305 8577, Japan
J Biol Chem 282:15862-71. 2007..These results provide the first convincing line of evidence that the self-association of GATA-1 is important for proper mammalian erythroid development in vivo...
- Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6Shuhei Kameya
The Jackson Laboratory, Bar Harbor, ME 04609, USA
Hum Mol Genet 11:1879-86. 2002..We also observed the localization of Wnt family proteins in the apical membrane of the RPE. Our results provide genetic evidence for an involvement of the Mfrp gene expressed by RPE in the degeneration of photoreceptors...
- A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cellsMichael R Tallack
Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland 4072, Australia
Genome Res 20:1052-63. 2010..Additionally, we suggest new mechanisms for KLF1 cooperation with other transcription factors, in particular the erythroid transcription factor GATA1, to maintain homeostasis in the erythroid compartment...
- Cloning of complementary DNAs encoding structurally related homeoproteins from preimplantation mouse embryos: their involvement in the differentiation of embryonic stem cellsKoichi Saito
Department of Biotechnology, Faculty of Bioresource Sciences, Akita Prefectural University, Akita, Japan
Biol Reprod 82:687-97. 2010..Taken together, it was concluded that these transcripts encoding homeoproteins are capable of regulating the maintenance and/or differentiation of mouse ES cells and likely regulate that of preimplantation embryos...
- Porphobilinogen deaminase over-expression in hepatocytes, but not in erythrocytes, prevents accumulation of toxic porphyrin precursors in a mouse model of acute intermittent porphyriaCarmen Unzu
Division of Gene Therapy and Hepatology, Center for Applied Medical Research, University of Navarra, Avda Pio XII 55, Pamplona, Spain
J Hepatol 52:417-24. 2010Acute intermittent porphyria (AIP) is characterized by hepatic porphobilinogen deaminase (PBGD) deficiency resulting in a marked overproduction of presumably toxic porphyrin precursors...
- Transcription arrest relief by S-II/TFIIS during gene expression in erythroblast differentiationMakiko Nagata
Department of Developmental Biochemistry, Graduate School of Pharmaceutical Sciences, University of Tokyo, 7 3 1 Hongo, Bunkyo ku, Tokyo 113 0033, Japan
Genes Cells 14:371-80. 2009..These results suggest that S-II is involved in transcription of the Bcl-x and beta(major)-globin gene during erythroblast differentiation, by relieving transcription arrest or affecting histone modification on chromatin template...
- Incomplete and inaccurate vocal imitation after knockdown of FoxP2 in songbird basal ganglia nucleus Area XSebastian Haesler
Max Planck Institute for Molecular Genetics, Berlin, Germany
PLoS Biol 5:e321. 2007..Our findings provide the first example of a functional gene analysis in songbirds and suggest that normal auditory-guided vocal motor learning requires FoxP2...
- The erythroid phenotype of EKLF-null mice: defects in hemoglobin metabolism and membrane stabilityRoy Drissen
Erasmus MC, Department of Cell Biology, P O Box 1738, 3000 DR Rotterdam, The Netherlands
Mol Cell Biol 25:5205-14. 2005..Our data provide an explanation for the hitherto unexplained severity of the EKLF null phenotype in erythropoiesis...
- Biochemical characterization of porphobilinogen deaminase-deficient mice during phenobarbital induction of heme synthesis and the effect of enzyme replacementAnnika Johansson
Porphyria Centre Sweden, Department of Laboratory Medicine, Division of Clinical Chemistry, Karolinska Institute, Karolinska University Hospital, Stockholm, Sweden
Mol Med 9:193-9. 2003Acute intermittent porphyria (AIP) is a genetic disorder caused by a deficiency of porphobilinogen deaminase (PBGD), the 3rd enzyme in heme synthesis...
- Genetic linkage analysis and homology relationships of genes located on human chromosome 11qP Charmley
Department of Microbiology and Immunology, University of California, Los Angeles 90024
Genomics 10:608-17. 1991..collagenase, N-CAM, dopamine-D2 receptor, apolipoproteins AI-CIII-AIV, CD3-epsilon, -delta, and -gamma, porphobilinogen deaminase, thy-1, and ets-1...
- Limited heme synthesis in porphobilinogen deaminase-deficient mice impairs transcriptional activation of specific cytochrome P450 genes by phenobarbitalR Jover
Biozentrum, University of Basel, Switzerland
Eur J Biochem 267:7128-37. 2000..A knockout mouse with targeted disruption of porphobilinogen deaminase, the third enzyme of the heme pathway, has been generated in our laboratory and used in the present ..
- Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyriaR L Lindberg
Biozentrum, University of Basel, CH 4056 Basel, Switzerland
J Clin Invest 103:1127-34. 1999..We have studied porphyric neuropathy in mice with a partial deficiency of porphobilinogen deaminase (PBGD)...
- Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyriaR L Lindberg
Department of Pharmacology, University of Basel, Switzerland
Nat Genet 12:195-9. 1996..human disease resulting from a dominantly inherited partial deficiency of the heme biosynthetic enzyme, porphobilinogen deaminase (PBGD)...
- Structure of the mouse H2A.X gene and physical linkage to the UPS locus on chromosome 9: assignment of the human H2A.X gene to 11q23 by sequence analysisC Porcher
INSERM U409, Faculte de Medecine Xavier Bichat, Universite Paris 7, France
Genomics 25:312-3. 1995..Sequence analysis revealed that this gene is situated in close proximity to the porphobilinogen deaminase (PBGD) gene in the opposite orientation. The synteny is conserved in human...
- Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLFA C Perkins
Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts, USA
Nature 375:318-22. 1995..Its stage-specific and beta-globin-gene-specific requirement suggests that EKLF may facilitate completion of the fetal-to-adult (haemoglobin gamma to beta) switch in humans...
- Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF geneB Nuez
MGC Department of Cell Biology and Genetics, Erasmus University, Rotterdam, The Netherlands
Nature 375:316-8. 1995..Enucleated erythrocytes are formed but these do not contain the proper amount of haemoglobin. We conclude that the transcription factor EKLF is essential for the final steps of definitive erythropoiesis in fetal liver...
- Erythropoiesis and globin gene expression in mice lacking the transcription factor NF-E2R A Shivdasani
Department of Medicine, Dana Farber Cancer Institute, Boston, MA 02115, USA
Proc Natl Acad Sci U S A 92:8690-4. 1995..Thus, regulation of globin gene transcription through NF-E2 binding sites in vivo is more complex than has been previously appreciated...
- Linkage of the structural gene for uroporphyrinogen I synthase to markers on mouse chromosome 9 in a cross between feral and inbred miceT K Antonucci
Biochem Genet 20:703-10. 1982The Ups locus has been mapped to mouse chromosome 9 in a three-point cross. The observed gene order is centromere-Ups-15-Mpi-1-22-Mod-1. Ups is unlinked to Lv, which encodes the previous enzyme in the heme biosynthesis pathway...
- Rare structural variants of human and murine uroporphyrinogen I synthaseM H Meisler
Proc Natl Acad Sci U S A 77:2848-52. 1980..This system provides a convenient isozyme marker for genetic studies and will facilitate determination of the chromosomal location of the uroporphyrinogen I synthase locus...
- Conserved linkage within a 4-cM region of mouse chromosome 9 and human chromosome 11T K Antonucci
Genetics 107:463-75. 1984..2 +/- 0.8) - es-17 - (3.0 +/- 1.0) - ups - (1.3 +/- 0.7) - alp-1 - (23.1 +/- 3.4) - mod-1 - (10.9 +/- 2.6) - acy-1...
- The mouse porphobilinogen deaminase gene. Structural organization, sequence, and transcriptional analysisC Beaumont
Laboratoire de Genetique Moleculaire, Faculte de Medecine Xavier Bichat, Paris, France
J Biol Chem 264:14829-34. 1989The porphobilinogen deaminase gene encodes the third enzyme of the heme biosynthetic pathway...
- Characterization of hypersensitive sites, protein-binding motifs, and regulatory elements in both promoters of the mouse porphobilinogen deaminase geneC Porcher
Laboratoire de Genetique Moleculaire, Faculte X Bichat, Paris, France
J Biol Chem 266:10562-9. 1991b>Porphobilinogen deaminase, the third enzyme in the heme biosynthetic pathway, is encoded by a gene having two different promoters...
- An 'equalized cDNA library' by the reassociation of short double-stranded cDNAsM S Ko
Furusawa MorphoGene Project, Research Development Corporation of Japan JRDC, Tsukuba
Nucleic Acids Res 18:5705-11. 1990..This indicates the usefulness of the current procedure for making equalized cDNA libraries...