| Written | 2002-04 | Anne-Paule Gimenez-Roqueplo |
| Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908 Paris cedex 15, France |
| Identity |
| Alias_names | PGL3 |
| succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD | |
| succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa | |
| Alias_symbol (synonym) | CYB560 |
| cybL | |
| Other alias | SDH3 (succinate dehydrogenase 3) |
| HGNC (Hugo) | SDHC |
| LocusID (NCBI) | 6391 |
| Atlas_Id | 389 |
| Location | 1q23.3 [Link to chromosome band 1q23] |
| Location_base_pair | Starts at 161314376 and ends at 161364745 bp from pter ( according to hg19-Feb_2009) [Mapping SDHC.png] |
| Fusion genes (updated 2016) | PCP4L1 (1q23.3) / SDHC (1q23.3) | SDHC (1q23.3) / NDUFS2 (1q23.3) |
| DNA/RNA |
| Description | 1180 bp, 6 exons |
| Protein |
| Description | 169 amino acids and 15.5 kDa |
| Expression | widely expressed |
| Localisation | mitochondrial inner membrane |
| Function | Complex II (succinate-ubiquinone oxidoreductase) of the respiratory chain is involved in the oxidation of succinate, carries electrons from FADH to CoQ. It is composed of four nuclear-encoded subunits. The subunit C protein or large subunit (cybL) is one of two integral membrane proteins anchoring the complex to membrane. |
| Homology | The complex II includes SDHD (cybS) and SDHB (iron-sulfur protein) which are also implicated in paragangliomas and pheochromocytomas. |
| Mutations |
| Germinal | Germline mutations cause hereditary paraganglioma. At this time, an unique mutation which destroyed the initial site of traduction (ATG, start codon) of SDHC gene has been reported in a family with a hereditary paraganglioma. |
| Somatic | Loss of wild type allele in tumor DNA is usually observed. |
| Implicated in |
| Note | |
| Entity | Hereditary paraganglioma type 3 |
| Note | Alias: Familial non chromaffin paragangliomas 3; Familial glomus tumor |
| Disease | Hereditary paraganglioma type 3 (PGL3) is a rare autosomal dominant disorder non maternally imprinted. Paragangliomas are slow growing highly vascular tumor, usually benign, derived from crest-neural cells. They are preferentially located in the neck (carotid body and glomus vagal) and head (glomus jugulare and tympanicum). |
| Prognosis | It depends on extent of the disease at the time of diagnosis. |
| Bibliography |
| Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. |
| Baysal BE, Willett-Brozick JE, Lawrence EC, Drovdlic CM, Savul SA, McLeod DR, Yee HA, Brackmann DE, Slattery WH 3rd, Myers EN, Ferrell RE, Rubinstein WS |
| Journal of medical genetics. 2002 ; 39 (3) : 178-183. |
| PMID 11897817 |
| Characterization of the human SDHC gene encoding of the integral membrane proteins of succinate-quinone oxidoreductase in mitochondria. |
| Elbehti-Green A, Au HC, Mascarello JT, Ream-Robinson D, Scheffler IE |
| Gene. 1998 ; 213 (1-2) : 133-140. |
| PMID 9714607 |
| 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. |
| Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K |
| Cytogenetics and cell genetics. 1997 ; 79 (1-2) : 132-138. |
| PMID 9533030 |
| Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. |
| Niemann S, Becker-Follmann J, Nürnberg G, Rüschendorf F, Sieweke N, Hügens-Penzel M, Traupe H, Wienker TF, Reis A, Müller U |
| American journal of medical genetics. 2001 ; 98 (1) : 32-36. |
| PMID 11426453 |
| Mutations in SDHC cause autosomal dominant paraganglioma, type 3. |
| Niemann S, Müller U |
| Nature genetics. 2000 ; 26 (3) : 268-270. |
| PMID 11062460 |
| Citation |
| This paper should be referenced as such : |
| Gimenez-Roqueplo, AP |
| SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein) |
| Atlas Genet Cytogenet Oncol Haematol. 2002;6(3):204-205. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Genes/SDHCID389.html |
| Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ] |
|
Head and Neck: Paraganglioma: an overview
|
| Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Familial /sporadic gastrointestinal stromal tumors (GISTs) Hereditary paraganglioma (PGL) |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Jun 30 11:17:49 CEST 2017 |
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