SDHAF2

Summary

Gene Symbol: SDHAF2
Description: succinate dehydrogenase complex assembly factor 2
Alias: C11orf79, PGL2, SDH5, SDH assembly factor 2, hSDH5, succinate dehydrogenase assembly factor 2, mitochondrial, succinate dehydrogenase subunit 5, mitochondrial
Species: human

Top Publications

  1. ncbi Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity
    E C Mariman
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Genet 95:56-62. 1995
  2. doi Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors
    Bora E Baysal
    Department of Pathology, Roswell Park Cancer Institute, Buffalo, NY, USA
    Biochim Biophys Acta 1827:573-7. 2013
  3. doi The role of complex II in disease
    Attje S Hoekstra
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Biochim Biophys Acta 1827:543-51. 2013
  4. pmc Emerging concepts in the flavinylation of succinate dehydrogenase
    Hyung J Kim
    Department of Medicine and Biochemistry, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Biochim Biophys Acta 1827:627-36. 2013
  5. doi SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Lancet Oncol 11:366-72. 2010
  6. doi Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas
    José Gaal
    Department of Pathology, Josephine Nefkens Institute, Room Ae304, Erasmus MC, University Medical Center Rotterdam, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    J Clin Endocrinol Metab 95:1274-8. 2010
  7. doi Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism
    Lee F Starker
    Department of Surgery, Yale University School of Medicine, 333 Cedar Street, TMP202, Box 208062, New Haven, CT 06520, USA
    Endocrine 38:397-401. 2010
  8. doi SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma
    Henricus P M Kunst
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Cancer Res 17:247-54. 2011
  9. doi SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
    Huai Xiang Hao
    Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
    Science 325:1139-42. 2009
  10. pmc Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23
    B E Baysal
    Department of Human Genetics, The University of Pittsburgh Medical Center, PA 15213 2593, USA
    Am J Hum Genet 60:121-32. 1997

Scientific Experts

  • Bora E Baysal
  • Jean Pierre Bayley
  • José Gaal
  • Henricus P M Kunst
  • Hyung J Kim
  • Attje S Hoekstra
  • Dennis R Winge
  • Lee F Starker
  • Huai Xiang Hao
  • Alberto Delgado-Verdugo
  • Tobias Carling
  • Robert Udelsman
  • Peyman Björklund
  • Brandon G Bentz
  • Peter Devilee
  • Hannie Kremer
  • Margit Schraders
  • Oleh Khalimonchuk
  • Joshua D Schiffman
  • Cor W R J Cremers
  • Jared Rutter
  • Steven P Gygi
  • Noah Dephoure
  • E C Mariman
  • C W Cremers
  • S E van Beersum
  • P M Struycken
  • H H Ropers

Detail Information

Publications11

  1. ncbi Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity
    E C Mariman
    Department of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Genet 95:56-62. 1995
    ..65) with markers from the distal locus. These observations argue for the presence of two distinct imprinted genes for glomus tumors on 11q. A model for tumor initiation and progression is presented based on all available information...
  2. doi Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors
    Bora E Baysal
    Department of Pathology, Roswell Park Cancer Institute, Buffalo, NY, USA
    Biochim Biophys Acta 1827:573-7. 2013
    ..in the structural subunit genes of mitochondrial complex II (succinate dehydrogenase; SDH) and the regulatory gene SDHAF2 predispose to paraganglioma tumors which show constitutive activation of hypoxia inducible pathways...
  3. doi The role of complex II in disease
    Attje S Hoekstra
    Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
    Biochim Biophys Acta 1827:543-51. 2013
    ..mutations, in both succinate dehydrogenase and associated accessory factor genes (SDHA, SDHB, SDHC, SDHD, SDHAF1, SDHAF2), have been identified over the last 12 years and include hereditary paraganglioma-pheochromocytomas, a diverse ..
  4. pmc Emerging concepts in the flavinylation of succinate dehydrogenase
    Hyung J Kim
    Department of Medicine and Biochemistry, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Biochim Biophys Acta 1827:627-36. 2013
    ..The discovery of the flavinylation factor Sdh5, however, has provided new insight into the possible mechanism associated with Sdh1 flavinylation...
  5. doi SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma
    Jean Pierre Bayley
    Department of Human Genetics, Leiden University Medical Centre, Leiden, The Netherlands
    Lancet Oncol 11:366-72. 2010
    ..Previous studies have shown the imprinted SDHAF2 gene to be mutated in a large Dutch kindred with paragangliomas...
  6. doi Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas
    José Gaal
    Department of Pathology, Josephine Nefkens Institute, Room Ae304, Erasmus MC, University Medical Center Rotterdam, P O Box 2040, 3000 CA Rotterdam, The Netherlands
    J Clin Endocrinol Metab 95:1274-8. 2010
    ..by germline-inactivating mutations in the mitochondrial succinate dehydrogenase (SDH) genes SDHB, SDHC, SDHD, or SDHAF2, and VHL is the result of inactivating VHL gene mutations...
  7. doi Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism
    Lee F Starker
    Department of Surgery, Yale University School of Medicine, 333 Cedar Street, TMP202, Box 208062, New Haven, CT 06520, USA
    Endocrine 38:397-401. 2010
    To investigate the SDHAF2 gene and its effect on primary hyperparathyroidism. Parathyroid tumors causing primary hyperparathyroidism (pHPT) are one of the more common endocrine neoplasias...
  8. doi SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma
    Henricus P M Kunst
    Department of Otorhinolaryngology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    Clin Cancer Res 17:247-54. 2011
    ..We recently described mutations in a previously uncharacterized human gene, now called SDHAF2, and showed that this was the long-sought "imprinted" PGL2 gene...
  9. doi SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma
    Huai Xiang Hao
    Department of Biochemistry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA
    Science 325:1139-42. 2009
    ..yeast as a model system, we investigated an uncharacterized but highly conserved mitochondrial protein (named here Sdh5)...
  10. pmc Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23
    B E Baysal
    Department of Human Genetics, The University of Pittsburgh Medical Center, PA 15213 2593, USA
    Am J Hum Genet 60:121-32. 1997
    ..1 (PGL2). We ascertained a total of 11 North American PGL families and confirmed maternal imprinting (inactivation)...