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Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.


RefSeq Accession Definition Services Price Order
NM_003002 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $159.00
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RefSeq Version NM_003002.3, 452405284
Length 1395 bp
Structure linear
Update Date 20-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.
Product succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform a precursor
Comment

Summary: This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013].


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

RefSeq NP_002993.1
CDS 85..564
Misc Feature(1)67..69
Misc Feature(2)67..69
Misc Feature(3)262..558
Misc Feature(4)order(262..264,268..273,409..411,418..423,430..432)
Misc Feature(5)274..339
Misc Feature(6)order(292..294,421..426,487..489,496..498,505..507,
Misc Feature(7)order(331..336,544..546,553..555)
Misc Feature(8)355..417
Misc Feature(9)order(388..390,400..402)
Misc Feature(10)424..426
Misc Feature(11)445..510
Exon (1)1..136
Gene:SDHD
Gene Synonym:CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Exon (2)137..253
Gene:SDHD
Gene Synonym:CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Exon (3)254..398
Gene:SDHD
Gene Synonym:CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Exon (4)399..1395
Gene:SDHD
Gene Synonym:CBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Translation MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSK AASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDAL QKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL
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Position Chain Variation Link
Gene SymbolSDHD
Gene SynonymCBT1; CII-4; CWS3; cybS; PGL; PGL1; QPs3; SDH4
Chromosome11
Locus Map11q23
All Transcripts
RefSeq Accession Definition Sequence Price Select
NM_001276503 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. Full Length $362.50
ORF Sequence $159.00
NM_001276504 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. Full Length $370.62
ORF Sequence $159.00
NM_001276506 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA. Full Length $442.25
ORF Sequence $159.00
NM_003002 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. Full Length $404.55
ORF Sequence $159.00
Title Mitochondrial complex II and genomic imprinting in inheritance of paraganglioma tumors .
Author Baysal,B.E.
Journal Biochim. Biophys. Acta 1827 (5), 573-577 (2013)
Title Somatic mutation analysis of the SDHB, SDHC, SDHD, and RET genes in the clinical assessment of sporadic and hereditary pheochromocytoma .
Author Weber,A., Hoffmann,M.M., Neumann,H.P. and Erlic,Z.
Journal Horm Cancer 3 (4), 187-192 (2012)
Title Prevalence and spectrum of SDHx mutations in pheochromocytoma and paraganglioma in patients from Belgium: an update .
Author Persu,A., Lannoy,N., Maiter,D., Mendola,A., Montigny,P., Oriot,P., Vinck,W., Garin,P., Hamoir,M. and Vikkula,M.
Journal Horm. Metab. Res. 44 (5), 349-353 (2012)
Title Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome .
Author Lendvai,N., Toth,M., Valkusz,Z., Beko,G., Szucs,N., Csajbok,E., Igaz,P., Kriszt,B., Kovacs,B., Racz,K. and Patocs,A.
Journal Clinics (Sao Paulo) 67 (SUPPL 1), 85-89 (2012)
Title Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma .
Author Gimm,O., Armanios,M., Dziema,H., Neumann,H.P. and Eng,C.
Journal Cancer Res. 60 (24), 6822-6825 (2000)
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 Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase .
Author Hirawake,H., Taniwaki,M., Tamura,A., Amino,H., Tomitsuka,E. and Kita,K.
Journal Biochim. Biophys. Acta 1412 (3), 295-300 (1999)
Title Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23 .
Author Hirawake,H., Taniwaki,M., Tamura,A., Kojima,S. and Kita,K.
Journal Cytogenet. Cell Genet. 79 (1-2), 132-138 (1997)
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)

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