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Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_004168 Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $849.00 20

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RefSeq Version NM_004168.3, 661567358
Length 2803 bp
Structure linear
Update Date 01-JUL-2014
Organism Homo sapiens (human)
Definition Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), transcript variant 1, mRNA.
Product succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 1
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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014].


Transcript Variant: This variant (1) encodes the longer isoform (1).


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_004159.2
CDS 134..2128
Misc Feature(1)251..2125
Misc Feature(2)251..2125
Misc Feature(3)386..1546
Misc Feature(4)668..670
Misc Feature(5)776..778
Misc Feature(6)1136..1138
Misc Feature(7)1667..2125
Misc Feature(8)1754..1756
Misc Feature(9)1955..1957
Translation MSGVRGLSRLLSARRLALAKAWPTVLQTGTRGFHFTVDGNKRASAKVSDSISAQYPVVDH EFDAVVVGAGGAGLRAAFGLSEAGFNTACVTKLFPTRSHTVAAQGGINAALGNMEEDNWR WHFYDTVKGSDWLGDQDAIHYMTEQAPAAVVELENYGMPFSRTEDGKIYQRAFGGQSLKF GKGGQAHRCCCVADRTGHSLLHTLYGRSLRYDTSYFVEYFALDLLMENGECRGVIALCIE DGSIHRIRAKNTVVATGGYGRTYFSCTSAHTSTGDGTAMITRAGLPCQDLEFVQFHPTGI YGAGCLITEGCRGEGGILINSQGERFMERYAPVAKDLASRDVVSRSMTLEIREGRGCGPE KDHVYLQLHHLPPEQLATRLPGISETAMIFAGVDVTKEPIPVLPTVHYNMGGIPTNYKGQ VLRHVNGQDQIVPGLYACGEAACASVHGANRLGANSLLDLVVFGRACALSIEESCRPGDK VPPIKPNAGEESVMNLDKLRFADGSIRTSELRLSMQKSMQNHAAVFRVGSVLQEGCGKIS KLYGDLKHLKTFDRGMVWNTDLVETLELQNLMLCALQTIYGAEARKESRGAHAREDYKVR IDEYDYSKPIQGQQKKPFEEHWRKHTLSYVDVGTGKVTLEYRPVIDKTLNEADCATVPPA IRSY
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Position Chain Variation Link
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), transcript variant 1, mRNA. On-demand $849.00 20
NM_001294332 Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), transcript variant 2, mRNA. On-demand $849.00 20
XM_005248329 PREDICTED: Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), transcript variant X1, mRNA. On-demand $849.00 20
XM_005248331 PREDICTED: Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) (SDHA), transcript variant X3, mRNA. On-demand $849.00 20
Title Mitochondrial matrix proteostasis is linked to hereditary paraganglioma: LON-mediated turnover of the human flavinylation factor SDH5 is regulated by its interaction with SDHA .
Author Bezawork-Geleta A, Saiyed T, Dougan DA and Truscott KN.
Journal FASEB J. 28 (4), 1794-1804 (2014)
Title Succinate dehydrogenase deficiency is associated with decreased 5-hydroxymethylcytosine production in gastrointestinal stromal tumors: implications for mechanisms of tumorigenesis .
Author Mason EF and Hornick JL.
Journal Mod. Pathol. 26 (11), 1492-1497 (2013)
Title Skeletal muscle MnSOD, mitochondrial complex II, and SIRT3 enzyme activities are decreased in maternal obesity during human pregnancy and gestational diabetes mellitus .
Author Boyle KE, Newsom SA, Janssen RC, Lappas M and Friedman JE.
Journal J. Clin. Endocrinol. Metab. 98 (10), E1601-E1609 (2013)
Title Identification of succinate dehydrogenase-deficient bladder paragangliomas .
Author Mason EF, Sadow PM, Wagner AJ, Remillard SP, Flood TA, Belanger EC, Hornick JL and Barletta JA.
Journal Am. J. Surg. Pathol. 37 (10), 1612-1618 (2013)
Title A role for mitochondrial enzymes in inherited neoplasia and beyond .
Author Eng C, Kiuru M, Fernandez MJ and Aaltonen LA.
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 AA, Farnsworth L, Ackrell BA, Turnbull DM and Birch-Machin MA.
Journal Biochim. Biophys. Acta 1185 (1), 125-128 (1994)
Title Hereditary Paraganglioma-Pheochromocytoma Syndromes .
Author Kirmani,S. and Young,W.F.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)

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