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Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, mRNA.


RefSeq Accession Definition Sequence Price Select
NM_003002 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, mRNA. Full Lenth $400.78
ORF Sequence $159.00


RefSeq Version NM_003002.2, 222352156
Length 1382 bp
Structure linear
Update Date 13-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, mRNA.
Product succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial precursor
Comment

Summary: Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The subunit D protein is one of two integral membrane proteins anchoring the complex to the matrix side of the membrane. Mutations in SDHD have been linked to hereditary paraganglioma. [provided by RefSeq].

RefSeq NP_002993.1
CDS 62..541
Exon (1)1..113
Exon (2)1..113
Exon (3)114..230
Exon (4)231..375
Exon (5)376..1365
Translation MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSK AASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDAL QKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL
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Position Chain Variation Link
62+a, gdbSNP:104894307
64+c, gdbSNP:80338842
75+a, gdbSNP:104894310
77+a, gdbSNP:11547889
85+c, tdbSNP:11550094
94+a, cdbSNP:104894309
95+a, gdbSNP:34677591
125+c, tdbSNP:104894306
156+a, cdbSNP:104894305
165+c, tdbSNP:11547892
167+c, tdbSNP:104894303
173+c, tdbSNP:80338843
178+c, tdbSNP:11547898
180+c, tdbSNP:11547895
186+a, gdbSNP:11547896
190+a, gdbSNP:104894308
199+a, gdbSNP:11547886
202+a, gdbSNP:11550093
210+a, gdbSNP:11214077
247+a, gdbSNP:11547899
256+c, tdbSNP:11547893
265+c, tdbSNP:9919552
303+c, tdbSNP:80338844
335+g, tdbSNP:80338845
338..340+, tatdbSNP:121908983
345+c, tdbSNP:80338846
366+a, tdbSNP:104894302
373+c, tdbSNP:61734352
402+a, gdbSNP:104894304
477+c, tdbSNP:80338847
494+a, cdbSNP:121908984
630+a, cdbSNP:11550095
643+a, tdbSNP:11547888
693+c, tdbSNP:11547897
complement(800)-t, cdbSNP:41377044
complement(1154)-g, adbSNP:693441
complement(1236)-t, gdbSNP:11547884
1288+c, tdbSNP:11214079
1344+a, gdbSNP:17113461
Gene SymbolSDHD
Gene SynonymCBT1; PGL; PGL1; SDH4
Chromosome11
Locus Map11q23
All Transcripts NM_003002
Title Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study .
Author Bailey,S.D., Xie,C., Do,R., Montpetit,A., Diaz,R., Mohan,V., Keavney,B., Yusuf,S., Gerstein,H.C., Engert,J.C. and Anand,S.
Journal Diabetes Care 33 (10), 2250-2253 (2010)
Title Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes .
Author Gill,A.J., Benn,D.E., Chou,A., Clarkson,A., Muljono,A., Meyer-Rochow,G.Y., Richardson,A.L., Sidhu,S.B., Robinson,B.G. and Clifton-Bligh,R.J.
Journal Hum. Pathol. 41 (6), 805-814 (2010)
Title Relevance of germline mutation screening in both familial and sporadic head and neck paraganglioma for early diagnosis and clinical management .
Author Hermsen,M.A., Sevilla,M.A., Llorente,J.L., Weiss,M.M., Grimbergen,A., Allonca,E., Garcia-Inclan,C., Balbin,M. and Suarez,C.
Journal Cell. Oncol. 32 (4), 275-283 (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 Mutation analysis of the SDHB and SDHD genes in pheochromocytomas and paragangliomas: identification of a novel nonsense mutation (Q168X) in the SDHB gene .
Author Oishi,Y., Nagai,S., Yoshida,M., Fujisawa,S., Sazawa,A., Shinohara,N., Nonomura,K., Matsuno,K. and Shimizu,C.
Journal Endocr. J. 57 (8), 745-750 (2010)
Title Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma .
Author Baysal,B.E., Ferrell,R.E., Willett-Brozick,J.E., Lawrence,E.C., Myssiorek,D., Bosch,A., van der Mey,A., Taschner,P.E., Rubinstein,W.S., Myers,E.N., Richard,C.W. III, Cornelisse,C.J., Devilee,P. and Devlin,B.
Journal Science 287 (5454), 848-851 (2000)
Title Initial assessment of human gene diversity and expression patterns based upon 83 million nucleotides of cDNA sequence .
Author Adams,M.D., Kerlavage,A.R., Fleischmann,R.D., Fuldner,R.A., Bult,C.J., Lee,N.H., Kirkness,E.F., Weinstock,K.G., Gocayne,J.D., White,O. et al.
Journal Nature 377 (6547 SUPPL), 3-174 (1995)
Title Fine mapping of a putatively imprinted gene for familial non-chromaffin paragangliomas to chromosome 11q13.1: evidence for genetic heterogeneity .
Author Mariman,E.C., van Beersum,S.E., Cremers,C.W., Struycken,P.M. and Ropers,H.H.
Journal Hum. Genet. 95 (1), 56-62 (1995)
Title A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter .
Author Heutink,P., van der Mey,A.G., Sandkuijl,L.A., van Gils,A.P., Bardoel,A., Breedveld,G.J., van Vliet,M., van Ommen,G.J., Cornelisse,C.J., Oostra,B.A. et al.
Journal Hum. Mol. Genet. 1 (1), 7-10 (1992)
Title Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria .
Author Kita,K., Oya,H., Gennis,R.B., Ackrell,B.A. and Kasahara,M.
Journal Biochem. Biophys. Res. Commun. 166 (1), 101-108 (1990)

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