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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004168 Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_004168.2, 156416002
Length 2405 bp
Structure linear
Update Date 17-APR-2013
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
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, Jul 2008].

RefSeq NP_004159.2
CDS 116..2110
Misc Feature(1)233..2107
Misc Feature(2)233..2107
Misc Feature(3)368..1528
Misc Feature(4)650..652
Misc Feature(5)1118..1120
Misc Feature(6)1649..2107
Misc Feature(7)1736..1738
Misc Feature(8)1937..1939
Exon (1)1..178
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (2)179..265
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (3)266..427
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (4)428..571
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (5)572..736
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (6)737..885
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (7)886..1010
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (8)1011..1179
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (9)1180..1375
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (10)1376..1547
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (11)1548..1666
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (12)1667..1778
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (13)1779..1909
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (14)1910..2023
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Exon (15)2024..2390
Gene:SDHA
Gene Synonym:CMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Translation MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDH EFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWR WHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKF GKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGI YGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPE KDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQ VLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKIS KLYGDLKHLKTFDRGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVR IDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPA IRSY
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Position Chain Variation Link
1+dbSNP:
1+a, gdbSNP:2303741
26..27+, gdbSNP:3214561
27..28+, cdbSNP:35805262
106+a, gdbSNP:3211464
116+a, c, gdbSNP:1061517
132+a, gdbSNP:187964306
147+c, tdbSNP:1139422
148+a, gdbSNP:1139423
206+dbSNP:
206+c, tdbSNP:142441643
212+g, tdbSNP:1061518
228+a, tdbSNP:34635677
229+a, tdbSNP:1061519
236+a, gdbSNP:1061520
248+a, gdbSNP:140736646
251+a, gdbSNP:144599870
261+a, gdbSNP:80207011
265+c, tdbSNP:140264486
269+dbSNP:
269+a, tdbSNP:150326789
278+c, tdbSNP:142926807
349+c, tdbSNP:201138324
354+c, tdbSNP:200005136
366+a, gdbSNP:199615452
371+a, gdbSNP:200519133
381+a, gdbSNP:138016874
424+a, gdbSNP:1139424
456+dbSNP:
456+c, tdbSNP:199805178
499+g, tdbSNP:11557099
523+a, gdbSNP:190477316
543+c, tdbSNP:200675907
556+c, tdbSNP:201453889
566+a, gdbSNP:143148642
568+c, tdbSNP:138917116
631+dbSNP:
631+a, gdbSNP:181278759
664+c, tdbSNP:61733344
665+a, gdbSNP:148246073
667+a, gdbSNP:147444427
673+c, tdbSNP:199618059
678+a, gdbSNP:139881415
712+a, gdbSNP:141874250
715+a, gdbSNP:201967413
717+c, tdbSNP:150646390
728+c, tdbSNP:61754481
734+a, cdbSNP:6555055
742+dbSNP:
742+a, gdbSNP:149821224
759+a, gdbSNP:146859802
799+a, gdbSNP:2115272
800+a, gdbSNP:41495051
819+c, tdbSNP:144513891
833+c, gdbSNP:1041946
838+c, tdbSNP:146653693
868+c, tdbSNP:1126411
872+a, gdbSNP:1126412
892+dbSNP:
892+c, tdbSNP:140243793
893+g, tdbSNP:1126413
893+g, tdbSNP:2688571
896+c, tdbSNP:143484394
900+a, cdbSNP:1126414
900+a, cdbSNP:2688572
907+c, gdbSNP:1126415
934+c, tdbSNP:1041947
937+c, tdbSNP:34771391
976+c, gdbSNP:140797184
985+a, cdbSNP:1126416
1006+c, tdbSNP:1126417
1014+dbSNP:
1014+c, tdbSNP:17411828
1017+a, gdbSNP:182055219
1033+c, gdbSNP:138828792
1034+a, gdbSNP:200632016
1084+c, tdbSNP:142849100
1085+a, gdbSNP:147014102
1101+a, gdbSNP:138265892
1106+a, gdbSNP:200526913
1111+c, tdbSNP:1062467
1112+a, gdbSNP:1062468
1114+c, gdbSNP:149556555
1117+a, gdbSNP:144252500
1129+a, gdbSNP:201341132
1152+c, gdbSNP:1041948
1153+c, gdbSNP:1041949
1167+g, tdbSNP:200103530
1170+a, gdbSNP:199844384
1230+dbSNP:
1230+c, gdbSNP:141493530
1255+c, gdbSNP:146348714
1266+c, gdbSNP:151170408
1285+c, tdbSNP:35277230
1291+c, tdbSNP:1041950
1337+c, tdbSNP:201826964
1388+dbSNP:
1388+g, tdbSNP:201822097
1389+g, tdbSNP:200047573
1414+c, tdbSNP:144473374
1420+g, tdbSNP:35964044
1420+g, tdbSNP:150831951
1450+a, g, tdbSNP:200223188
1452+c, tdbSNP:201741295
1461+c, tdbSNP:201139275
1482+c, tdbSNP:76896145
1483+a, gdbSNP:149875171
1486+a, cdbSNP:75091805
1509+a, gdbSNP:138277996
1511+a, gdbSNP:111387770
1528+c, tdbSNP:34779890
1529+a, gdbSNP:143798161
1530+a, cdbSNP:200305419
1537+a, gdbSNP:201868424
1545+c, tdbSNP:146990772
1571+dbSNP:
1571+a, cdbSNP:138190937
1576+c, tdbSNP:187540602
1638+c, tdbSNP:151266052
1650+a, gdbSNP:192818312
1684+dbSNP:
1684+c, tdbSNP:150192376
1686+c, tdbSNP:137852767
1687+c, tdbSNP:185679709
1694+c, tdbSNP:138723511
1712+c, gdbSNP:149367009
1738+a, gdbSNP:35502109
1753+a, gdbSNP:1041963
1759+c, tdbSNP:1126427
1767+c, tdbSNP:181238392
1775+c, tdbSNP:9809219
1779+dbSNP:
1779+a, gdbSNP:137852768
1795+a, gdbSNP:10039029
1811+c, gdbSNP:142936520
1832+c, gdbSNP:146134913
1834+a, gdbSNP:17415917
1850+a, gdbSNP:1042052
1852+c, tdbSNP:201454617
1853+a, tdbSNP:1042056
1855+c, tdbSNP:3181540
1866+c, tdbSNP:201068049
1867+a, gdbSNP:13070
1867+a, gdbSNP:77210621
1868+c, tdbSNP:200397144
1885+c, tdbSNP:142457602
1886+a, gdbSNP:1042170
1891+c, tdbSNP:1126538
1902+a, gdbSNP:1126557
1914+dbSNP:
1914+a, gdbSNP:1126568
1931+c, tdbSNP:17400614
1983+a, gdbSNP:13992
2001+a, tdbSNP:6960
2011+c, tdbSNP:17415225
2012+a, gdbSNP:1126687
2026+dbSNP:
2026+c, tdbSNP:11557098
2030+c, gdbSNP:1126697
2045+a, gdbSNP:3211483
2047+a, gdbSNP:6961
2059..2060+, ttdbSNP:148627127
2059+, ttdbSNP:112307877
2065+c, tdbSNP:1042430
2075+g, tdbSNP:60587941
2083+c, tdbSNP:3211499
2084+a, gdbSNP:6962
2089+c, gdbSNP:1042446
2094+c, gdbSNP:191412461
2096+a, gdbSNP:112937607
2097+c, tdbSNP:111540173
2100+a, gdbSNP:1042457
2123+c, tdbSNP:1042476
2124+a, gdbSNP:200769995
2153+c, tdbSNP:150891426
2167+c, tdbSNP:113703363
2177+a, cdbSNP:1042518
2182+c, tdbSNP:184619183
2194+c, tdbSNP:1042525
2199+a, gdbSNP:79810985
2200+c, tdbSNP:190513271
2211+c, tdbSNP:1042539
2237+a, gdbSNP:1042554
2243+c, gdbSNP:193112615
2247+c, tdbSNP:1804911
2248+c, tdbSNP:1042565
2282+a, gdbSNP:1042598
2299+c, tdbSNP:185107377
2359+c, tdbSNP:189989110
2369+c, gdbSNP:181306980
Gene SymbolSDHA
Gene SynonymCMD1GG; FP; PGL5; SDH1; SDH2; SDHF
Chromosome5
Locus Map5p15
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_004168 Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), nuclear gene encoding mitochondrial protein, mRNA. On-demand $849.00 20
Title Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation .
Author Miettinen,M., Killian,J.K., Wang,Z.F., Lasota,J., Lau,C., Jones,L., Walker,R., Pineda,M., Zhu,Y.J., Kim,S.Y., Helman,L. and Meltzer,P.
Journal Am. J. Surg. Pathol. 37 (2), 234-240 (2013)
Title Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors .
Author Dwight,T., Benn,D.E., Clarkson,A., Vilain,R., Lipton,L., Robinson,B.G., Clifton-Bligh,R.J. and Gill,A.J.
Journal Am. J. Surg. Pathol. 37 (2), 226-233 (2013)
Title Inhibition of alpha-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and .
Author Xiao,M., Yang,H., Xu,W., Ma,S., Lin,H., Zhu,H., Liu,L., Liu,Y., Yang,C., Xu,Y., Zhao,S., Ye,D., Xiong,Y. and Guan,K.L.
Journal Genes Dev. 26 (12), 1326-1338 (2012)
Title Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration .
Author Martins-de-Souza,D., Guest,P.C., Mann,D.M., Roeber,S., Rahmoune,H., Bauder,C., Kretzschmar,H., Volk,B., Baborie,A. and Bahn,S.
Journal J. Proteome Res. 11 (4), 2533-2543 (2012)
Title SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing .
Author Pantaleo,M.A., Astolfi,A., Indio,V., Moore,R., Thiessen,N., Heinrich,M.C., Gnocchi,C., Santini,D., Catena,F., Formica,S., Martelli,P.L., Casadio,R., Pession,A. and Biasco,G.
Journal J. Natl. Cancer Inst. 103 (12), 983-987 (2011)
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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