[1]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Liver;
PubMed=7798181 [NCBI, ExPASy, EBI, Israel, Japan]
Hirawake H.,
Wang H.,
Kuramochi T.,
Kojima S.,
Kita K.;
"Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria.";
J. Biochem. 116:221-227(1994).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Heart;
DOI=10.1016/0005-2728(94)90203-8; PubMed=8142412 [NCBI, ExPASy, EBI, Israel, Japan]
Morris A.A.M.,
Farnsworth L.,
Ackrell B.A.C.,
Turnbull D.M.,
Birch-MacHin M.A.;
"The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase.";
Biochim. Biophys. Acta 1185:125-128(1994).
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[3]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANT LS VAL-524.
DOI=10.1007/s004390051033; PubMed=10746566 [NCBI, ExPASy, EBI, Israel, Japan]
Parfait B.,
Chretien D.,
Roetig A.,
Marsac C.,
Munnich A.,
Rustin P.;
"Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.";
Hum. Genet. 106:236-243(2000).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Colon;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[5]
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PRELIMINARY PARTIAL NUCLEOTIDE SEQUENCE [MRNA].
TISSUE=Placenta;
Malcovati M.,
Marchetti L.,
Zanelli E.,
Tenchini M.L.;
"Cloning of the flavoprotein subunit of human succinate dehydrogenase.";
(In) Curti B., Ronchi S., Zanetti G. (eds.); Flavins and flavoproteins 1990, pp.727-730, Walter de Gruyter, Berlin (1991).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 546-562, AND VARIANT LS TRP-554.
DOI=10.1038/ng1095-144; PubMed=7550341 [NCBI, ExPASy, EBI, Israel, Japan]
Bourgeron T.,
Rustin P.,
Chretien D.,
Birch-MacHin M.A.,
Bourgeois M.,
Viegas-Pequignot E.,
Munnich A.,
Roetig A.;
"Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency.";
Nat. Genet. 11:144-149(1995).
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[7]
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PROTEIN SEQUENCE OF 76-92 AND 398-418.
TISSUE=Adipocyte;
DOI=10.1042/BJ20040647; PubMed=15242332 [NCBI, ExPASy, EBI, Israel, Japan]
Aboulaich N.,
Vainonen J.P.,
Stralfors P.,
Vener A.V.;
"Vectorial proteomics reveal targeting, phosphorylation and specific fragmentation of polymerase I and transcript release factor (PTRF) at the surface of caveolae in human adipocytes.";
Biochem. J. 383:237-248(2004).
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[8]
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VARIANT COMPLEX II DEFICIENCY/LS GLU-555.
DOI=10.1002/ajmg.a.10202; PubMed=12794685 [NCBI, ExPASy, EBI, Israel, Japan]
Van Coster R.,
Seneca S.,
Smet J.,
Van Hecke R.,
Gerlo E.,
Devreese B.,
Van Beeumen J.,
Leroy J.G.,
De Meirleir L.,
Lissens W.;
"Homozygous Gly555Glu mutation in the nuclear-encoded 70 kDa flavoprotein gene causes instability of the respiratory chain complex II.";
Am. J. Med. Genet. A 120:13-18(2003).
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- FUNCTION: Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q).
- CATALYTIC ACTIVITY: Succinate + ubiquinone = fumarate + ubiquinol.
- COFACTOR: FAD.
- PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle.
- SUBUNIT: Component of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD.
- SUBCELLULAR LOCATION: Mitochondrion inner membrane; Peripheral membrane protein; Matrix side.
- DISEASE: Defects in SDHA are a cause of complex II mitochondrial respiratory chain deficiency [MIM:252011]; also known as succinate CoQ reductase deficiency. Defects of oxidative phosphorylation give rise to heterogeneous clinical symptoms ranging from isolated organ dysfunction to multisystem disorder. A deficiency of complex II represents a rare cause of mitochondrial encephalomyopathy, leukodystrophy, late-onset optic atrophy and ataxia, myopathy with exercise intolerance, and isolated cardiomyopathy.
- DISEASE: Defects in SDHA are a cause of Leigh syndrome (LS) [MIM:256000]. LS is a severe disorder characterized by bilaterally symmetrical necrotic lesions in subcortical brain regions.
- MISCELLANEOUS: The complex, present in mitochondria, can be degraded to form EC 1.3.99.1, which no longer reacts with ubiquinone.
- SIMILARITY: Belongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily.
- SEQUENCE CAUTION:
- Sequence=CAA37886.1; Type=Miscellaneous discrepancy; Note=Differs extensively from that shown
- WEB RESOURCE: Name=GeneReviews; URL="http://www.genetests.org/query?gene=SDHA";.
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