SDHAF2

Summary

Gene Symbol: SDHAF2
Description: succinate dehydrogenase complex assembly factor 2
Alias: C11orf79, PGL2, SDH5, succinate dehydrogenase assembly factor 2, mitochondrial, SDH assembly factor 2, hSDH5, 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 Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China
    W D Zhu
    Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China Ear Institute, Shanghai Jiaotong University, Shanghai, China Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, 200092, China
    Eur J Med Genet 58:433-8. 2015
  3. doi A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort
    T Anttila
    Department of Otorhinolaryngology Head and Neck Surgery, Helsinki University Central Hospital and University of Helsinki, P O Box 220, 00029 HUS, Helsinki, Finland
    Eur Arch Otorhinolaryngol 272:2045-53. 2015
  4. doi Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation
    Ruth Casey
    Departments of Endocrinology R C, A G, M B, Pathology M B C, and Clinical Biochemistry P O, Galway University Hospital, Galway, Ireland and Departments of Endocrinology A T, D O and Clinical Biochemistry C J, Cork University Hospital, Cork, Ireland
    J Clin Endocrinol Metab 99:E1392-6. 2014
  5. doi Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA
    Ayenachew Bezawork-Geleta
    2Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne 3086, Australia K N T
    FASEB J 28:1794-804. 2014
  6. doi Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas
    Johan Kugelberg
    Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linkoping University, Linkoping, Sweden
    World J Surg 38:724-32. 2014
  7. pmc Succinate dehydrogenase 5 (SDH5) regulates glycogen synthase kinase 3β-β-catenin-mediated lung cancer metastasis
    Jun Liu
    From the Department of Lung Cancer, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin 300060, China
    J Biol Chem 288:29965-73. 2013
  8. doi Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients
    Valentina Piccini
    Department of Clinical Pathophysiology, University of Florence, 50139 Florence, Italy
    Endocr Relat Cancer 19:149-55. 2012
  9. 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
  10. 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

Scientific Experts

  • Kaye N Truscott
  • Bora E Baysal
  • Jean Pierre Bayley
  • José Gaal
  • Henricus P M Kunst
  • T Anttila
  • W D Zhu
  • Ayenachew Bezawork-Geleta
  • Ruth Casey
  • Johan Kugelberg
  • Jun Liu
  • Attje S Hoekstra
  • Hyung J Kim
  • Valentina Piccini
  • Dennis R Winge
  • Lee F Starker
  • Huai Xiang Hao
  • V Häyry
  • L J Bäck
  • J Hagstrom
  • X W Wang
  • Y C Chai
  • H Wu
  • A Makitie
  • D Y Chen
  • K Saarilahti
  • T Nicoli
  • K Aittomaki
  • M Niemela
  • Z Y Wang
  • P Vikatmaa
  • Peter Söderkvist
  • Patricia L Dahia
  • Giuseppe Opocher
  • Hartmut P H Neumann
  • Tamanna Saiyed
  • Francesca Schiavi
  • Aoife Garrahy
  • Marcia Bell
  • Jenny Welander
  • Paula O'Shea
  • Martin Bäckdahl
  • Caroline Joyce
  • Oliver Gimm
  • David A Dougan
  • Ambrogio Fassina
  • Catharina Larsson
  • Domhnall O'Halloran
  • Antoinette Tuthill
  • Mary B Casey
  • Daowei Wang
  • Liuwei Gao
  • Cong Pang
  • Meng Wang
  • Hua Zhang
  • Changli Wang
  • Jianquan Zhu
  • Giampaolo Bernini
  • Antongiulio Faggiano
  • Emanuela Lucci-Cordisco
  • Benedetta Zampetti
  • Maria Chiara Zatelli
  • Raffaele Pulli
  • Maria Rosaria Ambrosio
  • Giuseppe Di Trapani
  • Elisa Corsini
  • Alessandra Bacca
  • Tonino Ercolino
  • Valentino Giachè
  • Valeria Tantardini
  • Massimo Mannelli
  • Davide Carrara
  • Annamaria Colao
  • Carlo Pratesi
  • Luca Deiana
  • Elena Rapizzi
  • Gabriele Parenti
  • Letizia Canu
  • Stefano Mariotti
  • Robert Udelsman
  • Tobias Carling
  • Peyman Björklund
  • Alberto Delgado-Verdugo
  • Hannie Kremer
  • Peter Devilee
  • Noah Dephoure
  • Cor W R J Cremers
  • Margit Schraders
  • Brandon G Bentz
  • Oleh Khalimonchuk

Detail Information

Publications18

  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 Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China
    W D Zhu
    Department of Otolaryngology Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University, School of Medicine, Shanghai, China Ear Institute, Shanghai Jiaotong University, Shanghai, China Shanghai Key Laboratory of Translational Medicine on Ear and Nose Diseases, Shanghai, 200092, China
    Eur J Med Genet 58:433-8. 2015
    ..dehydrogenase complex A,B,C,D (SDHA, SDHB, SDHC, SDHD), succinate dehydrogenase complex assembly factor 2 (SDHAF2), TMEM127 (transmembrane protein 127) and VHL (Von Hippel-Lindau), were screened by direct sequencing and ..
  3. doi A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohort
    T Anttila
    Department of Otorhinolaryngology Head and Neck Surgery, Helsinki University Central Hospital and University of Helsinki, P O Box 220, 00029 HUS, Helsinki, Finland
    Eur Arch Otorhinolaryngol 272:2045-53. 2015
    ..We present an algorithm on the management of head and neck paragangliomas based on current knowledge...
  4. doi Universal genetic screening uncovers a novel presentation of an SDHAF2 mutation
    Ruth Casey
    Departments of Endocrinology R C, A G, M B, Pathology M B C, and Clinical Biochemistry P O, Galway University Hospital, Galway, Ireland and Departments of Endocrinology A T, D O and Clinical Biochemistry C J, Cork University Hospital, Cork, Ireland
    J Clin Endocrinol Metab 99:E1392-6. 2014
    ..Guidelines suggest that phenotype should guide genetic testing. Next-generation sequencing technology can simultaneously sequence 9 of the 18 known susceptibility genes in a timely, cost-efficient manner...
  5. doi Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA
    Ayenachew Bezawork-Geleta
    2Department of Biochemistry, La Trobe Institute for Molecular Science, La Trobe University, Melbourne 3086, Australia K N T
    FASEB J 28:1794-804. 2014
    ..One such condition, hereditary paraganglioma 2 (PGL2), is caused by a G78R mutation in the assembly factor SDH5. Although SDH5(G78R) is deficient in its ability to promote SDHA flavinylation, it has remained unclear whether ..
  6. doi Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomas
    Johan Kugelberg
    Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linkoping University, Linkoping, Sweden
    World J Surg 38:724-32. 2014
    ..Thus, additional genetic events leading to formation of such tumors in patients with VHL syndrome are sought. SDHAF2 (previously termed SDH5) and SDHD are both located on chromosome 11q and are required for the function of ..
  7. pmc Succinate dehydrogenase 5 (SDH5) regulates glycogen synthase kinase 3β-β-catenin-mediated lung cancer metastasis
    Jun Liu
    From the Department of Lung Cancer, Tianjin Medical University Cancer Institute and Hospital, National Clinical Research Center for Cancer, Tianjin 300060, China
    J Biol Chem 288:29965-73. 2013
    We demonstrate that loss of succinate dehydrogenase 5 (SDH5) expression initiates epithelial-mesenchymal transition (EMT), which is visualized by the repression of E-cadherin and up-regulation of vimentin in lung cancer cell lines and ..
  8. doi Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients
    Valentina Piccini
    Department of Clinical Pathophysiology, University of Florence, 50139 Florence, Italy
    Endocr Relat Cancer 19:149-55. 2012
    ..Overall, 79 consecutive patients with HNPGL were examined for mutations in SDHA, SDHB, SDHC, SDHD, SDHAF2, VHL, MAX, and TMEM127 genes by PCR/sequencing...
  9. 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 ..
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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...
  15. 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...
  16. pmc 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)...
  17. 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)...