SDHAF2

SDHAF2
Identifiers
AliasesSDHAF2, C11orf79, PGL2, SDH5, succinate dehydrogenase complex assembly factor 2
External IDsMGI: 1913322 HomoloGene: 32370 GeneCards: SDHAF2
Gene location (Human)
Chr.Chromosome 11 (human)[1]
BandNo data availableStart61,430,042 bp[1]
End61,447,529 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

54949

66072

Ensembl

ENSG00000167985

ENSMUSG00000024668

UniProt

Q9NX18

Q8C6I2

RefSeq (mRNA)

NM_017841

NM_025333

RefSeq (protein)

NP_060311

NP_079609

Location (UCSC)Chr 11: 61.43 – 61.45 MbChr 11: 10.5 – 10.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Succinate dehydrogenase complex assembly factor 2 is a protein that in humans is encoded by the SDHAF2 gene. [5]

Function

This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.[provided by RefSeq, Jul 2010].

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000167985 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024668 - Ensembl, May 2017
  3. ↑ "Human PubMed Reference:".
  4. ↑ "Mouse PubMed Reference:".
  5. ↑ "Entrez Gene: Succinate dehydrogenase complex assembly factor 2". Retrieved 2014-05-15.

Further reading

  • Hao, H. X.; Khalimonchuk, O; Schraders, M; Dephoure, N; Bayley, J. P.; Kunst, H; Devilee, P; Cremers, C. W.; Schiffman, J. D.; Bentz, B. G.; Gygi, S. P.; Winge, D. R.; Kremer, H; Rutter, J (2009). "SDH5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma". Science. 325 (5944): 1139–42. PMC 3881419 Freely accessible. PMID 19628817. doi:10.1126/science.1175689. 
  • Kirmani, S; Young, W. F.; Pagon, R. A.; Adam, M. P.; Ardinger, H. H.; Bird, T. D.; Dolan, C. R.; Fong, C. T.; Smith, R. J. H.; Stephens, K (1993). "Hereditary Paraganglioma-Pheochromocytoma Syndromes". PMID 20301715. 
  • Baysal, B. E.; Farr, J. E.; Rubinstein, W. S.; Galus, R. A.; Johnson, K. A.; Aston, C. E.; Myers, E. N.; Johnson, J. T.; Carrau, R; Kirkpatrick, S. J.; Myssiorek, D; Singh, D; Saha, S; Gollin, S. M.; Evans, G. A.; James, M. R.; Richard Cw, 3rd (1997). "Fine mapping of an imprinted gene for familial nonchromaffin paragangliomas, on chromosome 11q23". American Journal of Human Genetics. 60 (1): 121–32. PMC 1712548 Freely accessible. PMID 8981955. 
  • Gaal, J; Burnichon, N; Korpershoek, E; Roncelin, I; Bertherat, J; Plouin, P. F.; De Krijger, R. R.; Gimenez-Roqueplo, A. P.; Dinjens, W. N. (2010). "Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas". The Journal of Clinical Endocrinology & Metabolism. 95 (3): 1274–8. PMID 19915015. doi:10.1210/jc.2009-2170. 
  • Starker, L. F.; Delgado-Verdugo, A; Udelsman, R; Björklund, P; Carling, T (2010). "Expression and somatic mutations of SDHAF2 (SDH5), a novel endocrine tumor suppressor gene in parathyroid tumors of primary hyperparathyroidism". Endocrine. 38 (3): 397–401. PMID 20972721. doi:10.1007/s12020-010-9399-0. 
  • Bayley, J. P.; Kunst, H. P.; Cascon, A; Sampietro, M. L.; Gaal, J; Korpershoek, E; Hinojar-Gutierrez, A; Timmers, H. J.; Hoefsloot, L. H.; Hermsen, M. A.; Suárez, C; Hussain, A. K.; Vriends, A. H.; Hes, F. J.; Jansen, J. C.; Tops, C. M.; Corssmit, E. P.; De Knijff, P; Lenders, J. W.; Cremers, C. W.; Devilee, P; Dinjens, W. N.; De Krijger, R. R.; Robledo, M (2010). "SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma". The Lancet Oncology. 11 (4): 366–72. PMID 20071235. doi:10.1016/S1470-2045(10)70007-3. 
  • Mariman, E. C.; Van Beersum, S. E.; Cremers, C. W.; Struycken, P. M.; Ropers, H. H. (1995). "Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: Evidence for genetic heterogeneity". Human Genetics. 95 (1): 56–62. PMID 7814027. doi:10.1007/bf00225075. 
  • Kunst, H. P.; Rutten, M. H.; De Mönnink, J. P.; Hoefsloot, L. H.; Timmers, H. J.; Marres, H. A.; Jansen, J. C.; Kremer, H; Bayley, J. P.; Cremers, C. W. (2011). "SDHAF2 (PGL2-SDH5) and hereditary head and neck paraganglioma". Clinical Cancer Research. 17 (2): 247–54. PMID 21224366. doi:10.1158/1078-0432.CCR-10-0420. 

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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