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Gene Section
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SDHC (succinate dehydrogenase complex
subunit C, integral membrane protein)
II,
Anne-Paule Gimenez-Roqueplo
Département de Génétique Moléculaire, Hôpital Européen Georges Pompidou, 20-40, rue Leblanc, 75908
Paris cedex 15, France (APGR)
Published in Atlas Database: April 2002
Online updated version : http://AtlasGeneticsOncology.org/Genes/SDHCID389.html
DOI: 10.4267/2042/37870
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2002 Atlas of Genetics and Cytogenetics in Oncology and Haematology
Identity
Mutations
Other names: SDH3 (succinate dehydrogenase 3)
HGNC (Hugo) : SDHC
Location : 1q21
Germinal
Germline mutations cause hereditary paraganglioma.
At this time, a 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.
DNA/RNA
Description
Somatic
1180 bp, 6 exons.
Loss of wild type allele in tumor DNA is usually
observed.
Protein
Description
Implicated in
169 amino acids and 15.5 kDa.
Hereditary paraganglioma type 3
Expression
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.
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.
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(3)
References
Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K.
Cytochrome b in human complex II (succinate-ubiquinone
oxidoreductase): cDNA cloning of the components in liver
201
SDHC (succinate dehydrogenase complex II, subunit C, integral membrane protein)
mitochondria and chromosome assignment of the genes for
the large (SDHC) and small (SDHD) subunits to 1q21 and
11q23. Cytogenet Cell Genet. 1997;79(1-2):132-8
family
with
autosomal
dominant
non-chromaffin
paraganglioma. Am J Med Genet. 2001 Jan 1;98(1):32-6
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. Prevalence of
SDHB, SDHC, and SDHD germline mutations in clinic patients
with head and neck paragangliomas. J Med Genet. 2002
Mar;39(3):178-83
Elbehti-Green A, Au HC, Mascarello JT, Ream-Robinson D,
Scheffler IE. Characterization of the human SDHC gene
encoding of the integral membrane proteins of succinatequinone oxidoreductase in mitochondria. Gene. 1998 Jun
15;213(1-2):133-40
Niemann S, Müller U. Mutations in SDHC cause autosomal
dominant paraganglioma, type 3. Nat Genet. 2000
Nov;26(3):268-70
This article 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):201-202.
Niemann S, Becker-Follmann J, Nürnberg G, Rüschendorf F,
Sieweke N, Hügens-Penzel M, Traupe H, Wienker TF, Reis A,
Müller U. Assignment of PGL3 to chromosome 1 (q21-q23) in a
Atlas Genet Cytogenet Oncol Haematol. 2002; 6(3)
Gimenez-Roqueplo AP
202