Succinate dehydrogenase complex subunit C

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Succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa
PDB 1zp0 EBI.png
PDB rendering based on 1zp0.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SDHC ; CYB560; CYBL; PGL3; QPS1; SDH3
External IDs OMIM602413 MGI1913302 HomoloGene2256 GeneCards: SDHC Gene
Orthologs
Species Human Mouse
Entrez 6391 66052
Ensembl ENSG00000143252 ENSMUSG00000058076
UniProt Q99643 Q9CZB0
RefSeq (mRNA) NM_001035511 NM_025321
RefSeq (protein) NP_001030588 NP_079597
Location (UCSC) Chr 1:
161.28 – 161.33 Mb
Chr 1:
171.13 – 171.15 Mb
PubMed search [1] [2]

Succinate dehydrogenase complex subunit C, also known as succinate dehydrogenase cytochrome b560 subunit, mitochondrial, is a protein that in humans is encoded by the SDHC gene.[1][2]

Gene[edit]

The gene that codes for the SDHC protein is nuclear, even though the protein is located in the inner membrane of the mitochondria. The location of the gene in humans is on the first chromosome at q21. The gene is partitioned in 6 exons. The expressed protein has 170 amino acids.

Function[edit]

SuccDeh.svg

The SDHC protein is one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as the mitochondrial complex II, a key enzyme complex of the citric acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane.[1]

The succinate dehydrogenase (SDH) protein complex catalyzes the oxidation of succinate (succinate + ubiquinone => fumarate + ubiquinol). The SDHA subunit is connected to the SDHB subunit on the hydrophilic, catalytic end of the complex. Electrons removed from succinate transfer SDHA to SDHB and further to the SDHC/SDHD subunits on the hydrophobic end of the complex anchored in the mitochondrial membrane.

The SDH complex is located on the inner membrane of the mitochondria and participates in both the Citric Acid Cycle and Respiratory chain.

SDHC acts as an intermediate in the basic SDH enzyme action:

  1. SDHA converts succinate to fumarate as part of the Citric Acid Cycle. This reaction also converts FAD to FADH2.
  2. Electrons from the FADH2 are transferred to the SDHB subunit iron clusters [2Fe-2S],[4Fe-4S],[3Fe-4S]. This function is part of the Respiratory chain
  3. Finally the electrons are transferred to the Ubiquinone (Q) pool via the SDHC/SDHD subunits.

Clinical significance[edit]

Mutations in this gene have been associated with paragangliomas.[1][3]

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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TCACycle_WP78 go to article go to article go to article go to article go to HMDB go to article go to article go to article Go to article go to article go to article go to article go to article go to article Go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to HMDB go to article go to article go to HMDB go to article go to article go to HMDB go to article go to article go to HMDB go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to WikiPathways go to article go to article go to article go to article
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  1. ^ The interactive pathway map can be edited at WikiPathways: "TCACycle_WP78". 

References[edit]

  1. ^ a b c "Entrez Gene: succinate dehydrogenase complex". 
  2. ^ Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K (1997). "Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23". Cytogenet. Cell Genet. 79 (1-2): 132–8. doi:10.1159/000134700. PMID 9533030. 
  3. ^ Niemann S, Müller U, Engelhardt D, Lohse P (July 2003). "Autosomal dominant malignant and catecholamine-producing paraganglioma caused by a splice donor site mutation in SDHC". Hum. Genet. 113 (1): 92–4. doi:10.1007/s00439-003-0938-0. PMID 12658451. 

Further reading[edit]

  • Bayley JP, Weiss MM, Grimbergen A, et al. (2009). "Molecular characterization of novel germline deletions affecting SDHD and SDHC in pheochromocytoma and paraganglioma patients.". Endocr. Relat. Cancer 16 (3): 929–37. doi:10.1677/ERC-09-0084. PMID 19546167. 
  • Pasini B, McWhinney SR, Bei T, et al. (2008). "Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD.". Eur. J. Hum. Genet. 16 (1): 79–88. doi:10.1038/sj.ejhg.5201904. PMID 17667967. 
  • Gaal J, Burnichon N, Korpershoek E, et al. (2010). "Isocitrate dehydrogenase mutations are rare in pheochromocytomas and paragangliomas.". J. Clin. Endocrinol. Metab. 95 (3): 1274–8. doi:10.1210/jc.2009-2170. PMID 19915015. 
  • Milosevic D, Lundquist P, Cradic K, et al. (2010). "Development and validation of a comprehensive mutation and deletion detection assay for SDHB, SDHC, and SDHD.". Clin. Biochem. 43 (7-8): 700–4. doi:10.1016/j.clinbiochem.2010.01.016. PMC 3419008. PMID 20153743. 
  • Bonache S, Martí­nez J, Fernández M, et al. (2007). "Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis.". Int. J. Androl. 30 (3): 144–52. doi:10.1111/j.1365-2605.2006.00730.x. PMID 17298551. 
  • Cascán A, Lápez-Jiménez E, Landa I, et al. (2009). "Rationalization of genetic testing in patients with apparently sporadic pheochromocytoma/paraganglioma.". Horm. Metab. Res. 41 (9): 672–5. doi:10.1055/s-0029-1202814. PMID 19343621. 
  • Goto Y, Ando T, Naito M, et al. (2006). "No association of an SDHC gene polymorphism with gastric cancer.". Asian Pac. J. Cancer Prev. 7 (4): 525–8. PMID 17250422. 
  • Cascán A, Pita G, Burnichon N, et al. (2009). "Genetics of pheochromocytoma and paraganglioma in Spanish patients.". J. Clin. Endocrinol. Metab. 94 (5): 1701–5. doi:10.1210/jc.2008-2756. PMID 19258401. 
  • Boedeker CC, Neumann HP, Maier W, et al. (2007). "Malignant head and neck paragangliomas in SDHB mutation carriers.". Otolaryngol Head Neck Surg 137 (1): 126–9. doi:10.1016/j.otohns.2007.01.015. PMID 17599579. 
  • Gill AJ, Benn DE, Chou A, et al. (2010). "Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes.". Hum. Pathol. 41 (6): 805–14. doi:10.1016/j.humpath.2009.12.005. PMID 20236688. 
  • Ricketts C, Woodward ER, Killick P, et al. (2008). "Germline SDHB mutations and familial renal cell carcinoma.". J. Natl. Cancer Inst. 100 (17): 1260–2. doi:10.1093/jnci/djn254. PMID 18728283. 
  • McWhinney SR, Pasini B, Stratakis CA, (2007). "Familial gastrointestinal stromal tumors and germ-line mutations.". N. Engl. J. Med. 357 (10): 1054–6. doi:10.1056/NEJMc071191. PMID 17804857. 
  • Eng C, Kiuru M, Fernandez MJ, Aaltonen LA (2003). "A role for mitochondrial enzymes in inherited neoplasia and beyond.". Nat. Rev. Cancer 3 (3): 193–202. doi:10.1038/nrc1013. PMID 12612654. 
  • Hermsen MA, Sevilla MA, Llorente JL, et al. (2010). "Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management.". Cell. Oncol. 32 (4): 275–83. doi:10.3233/CLO-2009-0498. PMID 20208144. 
  • Brií¨re JJ, Favier J, El Ghouzzi V, et al. (2005). "Succinate dehydrogenase deficiency in human.". Cell. Mol. Life Sci. 62 (19-20): 2317–24. doi:10.1007/s00018-005-5237-6. PMID 16143825. 
  • Mannelli M, Castellano M, Schiavi F, et al. (2009). "Clinically guided genetic screening in a large cohort of italian patients with pheochromocytomas and/or functional or nonfunctional paragangliomas.". J. Clin. Endocrinol. Metab. 94 (5): 1541–7. doi:10.1210/jc.2008-2419. PMID 19223516. 
  • Richalet JP, Gimenez-Roqueplo AP, Peyrard S, et al. (2009). "A role for succinate dehydrogenase genes in low chemoresponsiveness to hypoxia?". Clin. Auton. Res. 19 (6): 335–42. doi:10.1007/s10286-009-0028-z. PMID 19768395. 
  • Pigny P, Cardot-Bauters C, Do Cao C, et al. (2009). "Should genetic testing be performed in each patient with sporadic pheochromocytoma at presentation?". Eur. J. Endocrinol. 160 (2): 227–31. doi:10.1530/EJE-08-0574. PMID 19029228. 
  • Korpershoek E, Van Nederveen FH, Dannenberg H, et al. (2006). "Genetic analyses of apparently sporadic pheochromocytomas: the Rotterdam experience.". Ann. N. Y. Acad. Sci. 1073: 138–48. doi:10.1196/annals.1353.014. PMID 17102080. 
  • Wang L, McDonnell SK, Hebbring SJ, et al. (2008). "Polymorphisms in mitochondrial genes and prostate cancer risk.". Cancer Epidemiol. Biomarkers Prev. 17 (12): 3558–66. doi:10.1158/1055-9965.EPI-08-0434. PMC 2750891. PMID 19064571. 

External links[edit]

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