| Identity |
| Other names | SDH3 (succinate dehydrogenase 3) |
| HGNC | SDHC |
| Location | 1q21 |
| Location_base_pair | Starts at 159550790 and ends at 159601159 bp from pter ( according to hg18-Mar_2006). |
| 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 |
| 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. |
| External links |
| Bibliography |
| 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 |
| 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 |
| Mutations in SDHC cause autosomal dominant paraganglioma, type 3. |
| Niemann S, Mˆºller U |
| Nature genetics. 2000 ; 26 (3) : 268-270. |
| PMID 11062460 |
| Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma. |
| Niemann S, Becker-Follmann J, Nˆºrnberg G, Rˆºschendorf F, Sieweke N, Hˆºgens-Penzel M, Traupe H, Wienker TF, Reis A, Mˆºller U |
| American journal of medical genetics. 2001 ; 98 (1) : 32-36. |
| PMID 11426453 |
| 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 |
| REVIEW articles | automatic search in PubMed |
| Last year publications | automatic search in PubMed |
| Contributor(s) |
| Written | 04-2002 | Anne-Paule Gimenez-Roqueplo |
| 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. April 2002 . URL : http://AtlasGeneticsOncology.org/Genes/SDHCID389.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sun Nov 9 19:47:25 2008 |
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