Genomes and Genes
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
- 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...
- 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...
- 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...
- 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 paragangliomas
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...
- 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 (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...
- 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)...