Genomes and Genes
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
- Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneityE 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...
- Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in ChinaW 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 ..
- A two-decade experience of head and neck paragangliomas in a whole population-based single centre cohortT 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...
- Universal genetic screening uncovers a novel presentation of an SDHAF2 mutationRuth 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...
- Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHAAyenachew 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 ..
- Role of SDHAF2 and SDHD in von Hippel-Lindau associated pheochromocytomasJohan 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 ..
- Succinate dehydrogenase 5 (SDH5) regulates glycogen synthase kinase 3β-β-catenin-mediated lung cancer metastasisJun 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. 2013We 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 ..
- Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patientsValentina 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...
- The role of complex II in diseaseAttje 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 ..
- Emerging concepts in the flavinylation of succinate dehydrogenaseHyung 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...
- Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumorsBora 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...
- SDHAF2 (PGL2-SDH5) and hereditary head and neck paragangliomaHenricus 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...
- Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidismLee 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. 2010To investigate the SDHAF2 gene and its effect on primary hyperparathyroidism. Parathyroid tumors causing primary hyperparathyroidism (pHPT) are one of the more common endocrine neoplasias...
- SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytomaJean 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...
- Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomasJosé 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...
- SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paragangliomaHuai 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)...
- Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23B 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)...