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Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_004168 Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA. Full Lenth $697.45
ORF Sequence $578.55


RefSeq Version NM_004168.2, 156416002
Length 2405 bp
Structure linear
Update Date 13-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA.
Product succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial precursor
Comment

Summary: This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. [provided by RefSeq].

RefSeq NP_004159.2
CDS 116..2110
Exon (1)1..178
Exon (2)1..178
Exon (3)179..265
Exon (4)266..427
Exon (5)428..571
Exon (6)572..736
Exon (7)737..885
Exon (8)886..1010
Exon (9)1011..1179
Exon (10)1180..1375
Exon (11)1376..1547
Exon (12)1548..1666
Exon (13)1667..1778
Exon (14)1779..1909
Exon (15)1910..2023
Exon (16)2024..2390
Translation MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDH EFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWR WHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKF GKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGI YGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPE KDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQ VLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKIS KLYGDLKHLKTFDRGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVR IDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPA IRSY
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Position Chain Variation Link
complement(1)-g, adbSNP:2303741
complement(26..27)-, gdbSNP:3214561
32..33+, cdbSNP:35805262
106+a, gdbSNP:3211464
116+a, c, gdbSNP:1061517
212+g, tdbSNP:1061518
228+a, tdbSNP:34635677
229+a, tdbSNP:1061519
236+a, gdbSNP:1061520
261+a, gdbSNP:80207011
358+c, tdbSNP:3211465
366+a, gdbSNP:1061521
371+a, gdbSNP:17090839
424+a, gdbSNP:34930948
424+a, gdbSNP:1139424
499+g, tdbSNP:11557099
664+c, tdbSNP:61733344
728+c, tdbSNP:61754481
734+a, cdbSNP:6555055
complement(799)-g, adbSNP:2115272
800+a, gdbSNP:41495051
833+c, gdbSNP:1041946
868+c, tdbSNP:1126411
893+g, tdbSNP:1126413
900+a, cdbSNP:1126414
907+c, gdbSNP:1126415
937+c, tdbSNP:34771391
985+a, cdbSNP:1126416
1006+c, tdbSNP:1126417
1014+c, tdbSNP:1126418
1111+c, tdbSNP:1062467
1112+a, gdbSNP:1062468
1153+c, gdbSNP:1041949
1285+c, tdbSNP:35277230
1291+c, tdbSNP:1041950
1420+g, tdbSNP:35964044
1467+a, gdbSNP:115253287
1482+c, tdbSNP:76896145
1486+a, cdbSNP:75091805
1511+a, gdbSNP:111387770
1528+c, tdbSNP:34779890
1738+a, gdbSNP:35502109
1753+a, gdbSNP:1041963
1759+c, tdbSNP:1126427
1795+a, gdbSNP:1139449
1795+a, gdbSNP:10039029
1834+a, gdbSNP:17415917
1850+a, gdbSNP:1042052
1853+a, tdbSNP:1042056
1855+c, tdbSNP:3181540
1867+a, gdbSNP:77210621
1867+a, gdbSNP:13070
1891+c, tdbSNP:1126538
1902+a, gdbSNP:1126557
1914+a, gdbSNP:1126568
1931+c, tdbSNP:1126599
1983+a, gdbSNP:13992
2001+a, tdbSNP:34482117
2001+a, tdbSNP:6960
2011+c, tdbSNP:3211478
2026+c, tdbSNP:117991707
2030+c, gdbSNP:1126697
2045+a, gdbSNP:3211483
2047+a, gdbSNP:6961
2059+, ttdbSNP:112307877
2065+c, tdbSNP:1042430
2075+g, tdbSNP:60587941
2083+c, tdbSNP:3211499
2084+a, gdbSNP:6962
2089+c, gdbSNP:1042446
2096+a, gdbSNP:112937607
2097+c, tdbSNP:111540173
2100+a, gdbSNP:1042457
2123+c, tdbSNP:1042476
2167+c, tdbSNP:113703363
2177+a, cdbSNP:1042518
2194+c, tdbSNP:1042525
2199+a, gdbSNP:79810985
2211+c, tdbSNP:1042539
2237+a, gdbSNP:1042554
2247+c, tdbSNP:1804911
2248+c, tdbSNP:1042565
2282+a, gdbSNP:1042598
2326+c, gdbSNP:1042635
2328+a, tdbSNP:1042637
Gene SymbolSDHA
Gene SynonymCMD1GG; FP; SDH1; SDH2; SDHF
Chromosome5
Locus Map5p15
All Transcripts NM_004168
Title Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency .
Author Mbaya,E., Oules,B., Caspersen,C., Tacine,R., Massinet,H., Pennuto,M., Chretien,D., Munnich,A., Rotig,A., Rizzuto,R., Rutter,G.A., Paterlini-Brechot,P. and Chami,M.
Journal Cell Death Differ. 17 (12), 1855-1866 (2010)
Title Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase .
Author Levitas,A., Muhammad,E., Harel,G., Saada,A., Caspi,V.C., Manor,E., Beck,J.C., Sheffield,V. and Parvari,R.
Journal Eur. J. Hum. Genet. 18 (10), 1160-1165 (2010)
Title Mitochondrial respiratory chain in the colonic mucosal of patients with ulcerative colitis .
Author Sifroni,K.G., Damiani,C.R., Stoffel,C., Cardoso,M.R., Ferreira,G.K., Jeremias,I.C., Rezin,G.T., Scaini,G., Schuck,P.F., Dal-Pizzol,F. and Streck,E.L.
Journal Mol. Cell. Biochem. 342 (1-2), 111-115 (2010)
Title Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation .
Author Korsten,A., de Coo,I.F., Spruijt,L., de Wit,L.E., Smeets,H.J. and Sluiter,W.
Journal Biochim. Biophys. Acta 1797 (2), 197-203 (2010)
Title Genetic variants in nuclear-encoded mitochondrial genes influence .
Author Hendrickson,S.L., Lautenberger,J.A., Chinn,L.W., Malasky,M., Sezgin,E., Kingsley,L.A., Goedert,J.J., Kirk,G.D., Gomperts,E.D., Buchbinder,S.P., Troyer,J.L. and O'Brien,S.J.
Journal PLoS ONE 5 (9), E12862 (2010)
Title A role for mitochondrial enzymes in inherited neoplasia and beyond .
Author Eng,C., Kiuru,M., Fernandez,M.J. and Aaltonen,L.A.
Journal Nat. Rev. Cancer 3 (3), 193-202 (2003)
Title Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome .
Author Parfait,B., Chretien,D., Rotig,A., Marsac,C., Munnich,A. and Rustin,P.
Journal Hum. Genet. 106 (2), 236-243 (2000)
Title Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency .
Author Bourgeron,T., Rustin,P., Chretien,D., Birch-Machin,M., Bourgeois,M., Viegas-Pequignot,E., Munnich,A. and Rotig,A.
Journal Nat. Genet. 11 (2), 144-149 (1995)
Title Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria .
Author Hirawake,H., Wang,H., Kuramochi,T., Kojima,S. and Kita,K.
Journal J. Biochem. 116 (1), 221-227 (1994)
Title The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase .
Author Morris,A.A., Farnsworth,L., Ackrell,B.A., Turnbull,D.M. and Birch-Machin,M.A.
Journal Biochim. Biophys. Acta 1185 (1), 125-128 (1994)

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