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SDHD succinate dehydrogenase complex, subunit D, integral membrane protein [Homo sapiens (human)]


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001276503 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 2, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001276504 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 3, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_001276506 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 4, mRNA. GenEZ ORF Cloning On-demand $299.00 14
NM_003002 Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), transcript variant 1, mRNA. GenEZ ORF Cloning In-stock $308.00 $259.00 10

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Gene Symbol SDHD
Entrez Gene ID 6392
Full Name succinate dehydrogenase complex, subunit D, integral membrane protein
Synonyms CBT1, CII-4, CWS3, PGL, PGL1, QPs3, SDH4, cybS
General protein information
Preferred Names
succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
Names
succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
succinate-ubiquinone reductase membrane anchor subunit
succinate-ubiquinone oxidoreductase cytochrome b small subunit
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

11

11q23

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].
Disorder

MIM: 602690

Paragangliomas, familial nonchromaffin, 1, with or without deafness,

mRNA Protein Product Sequence Price Select
NM_001276503, 452405464 NP_001263432, 452405465 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform b precursor ORF Sequence $150.00
NM_001276504, 452405677 NP_001263433, 452405678 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform c precursor ORF Sequence $150.00
NM_001276506, 452406067 NP_001263435, 452406068 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform d precursor ORF Sequence $150.00
NM_003002, 452405284 NP_002993, 4506865 succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial isoform a precursor ORF Sequence $159.00
KEGG
hsa00020Citrate cycle (TCA cycle)
hsa00190Oxidative phosphorylation
hsa05016Huntington's disease
hsa05012Parkinson's disease
hsa05010Alzheimer's disease
hsa_M00148Succinate dehydrogenase (ubiquinone)
hsa_M00011Citrate cycle, second carbon oxidation, 2-oxoglutarate => oxaloacetate
hsa01200Carbon metabolism
hsa_M00009Citrate cycle (TCA cycle, Krebs cycle)
hsa04932Non-alcoholic fatty liver disease (NAFLD)
WikiPathways
WP78TCA Cycle
WP111Electron Transport Chain
BIOCYC
HUMAN_PWY-5690TCA cycle II (eukaryotic)
META_PWY66-398TCA cycle VIII (metazoan)
Reactome
REACT_6305Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
REACT_1785Citric acid cycle (TCA cycle)
REACT_1046Pyruvate metabolism and Citric Acid (TCA) cycle
REACT_22393Respiratory electron transport
REACT_111217Metabolism
REACT_111083The citric acid (TCA) cycle and respiratory electron transport
Homo sapiens (human)SDHDNP_002993.1
Pan troglodytes (chimpanzee)SDHDXP_508756.1
Macaca mulatta (Rhesus monkey)SDHDXP_001107882.1
Canis lupus familiaris (dog)SDHDXP_536573.3
Bos taurus (cattle)SDHDNP_776604.1
Mus musculus (house mouse)SdhdNP_080124.1
Rattus norvegicus (Norway rat)SdhdNP_942083.1
Gallus gallus (chicken)SDHDNP_001006321.1
Danio rerio (zebrafish)sdhdbNP_001004004.1
Xenopus (Silurana) tropicalis (western clawed frog)sdhdNP_989357.1
Process
IDNameEvidence
GO:0006099tricarboxylic acid cycleIDA
GO:0006099tricarboxylic acid cycleIEA
GO:0006099tricarboxylic acid cycleTAS
GO:0022904respiratory electron transport chainTAS
GO:0044237cellular metabolic processTAS
GO:0044281small molecule metabolic processTAS
Component
IDNameEvidence
GO:0005739mitochondrionTAS
GO:0005740mitochondrial envelopeTAS
GO:0005743mitochondrial inner membraneIDA
GO:0005743mitochondrial inner membraneISS
GO:0005743mitochondrial inner membraneTAS
GO:0005749mitochondrial respiratory chain complex IIISS
GO:0016021integral component of membraneIEA
Function
IDNameEvidence
GO:0000104succinate dehydrogenase activityIDA
GO:0009055electron carrier activityTAS
GO:0020037heme bindingISS
GO:0046872metal ion bindingIEA
GO:0048039ubiquinone bindingISS
GeneCards SDHD
UniProt O14521
Vega OTTHUMG00000166997
MIM 602690
Ensembl ENSG00000204370
HGNC 10683
HPRD 04069

GeneRIFs: Gene References Into Functions What's a GeneRIF?

What is the normal function of the SDHD gene?

The SDHD gene provides instructions for making one of four subunits of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use. The SDHD protein helps anchor the SDH enzyme in the mitochondrial membrane.

Within mitochondria, the SDH enzyme links two important pathways in energy conversion: the citric acid cycle (or Krebs cycle) and oxidative phosphorylation. As part of the citric acid cycle, the SDH enzyme converts a compound called succinate to another compound called fumarate. Negatively charged particles called electrons are released during this reaction. The electrons are transferred through the SDH subunits, including the SDHD protein, to the oxidative phosphorylation pathway. In oxidative phosphorylation, the electrons create an electrical charge that provides energy for the production of adenosine triphosphate (ATP), the cell's main energy source.

Succinate, the compound on which the SDH enzyme acts, is an oxygen sensor in the cell and can help turn on specific pathways that stimulate cells to grow in a low-oxygen environment (hypoxia). In particular, succinate stabilizes a protein called hypoxia-inducible factor (HIF) by preventing a reaction that would allow HIF to be broken down. HIF controls several important genes involved in cell division and the formation of new blood vessels in a hypoxic environment.

The SDHD gene is a tumor suppressor, which means it prevents cells from growing and dividing in an uncontrolled way.

Interactant

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