SDHD

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Succinate dehydrogenase complex, subunit D, integral membrane protein
SuccDeh.svg
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols SDHD ; CBT1; CII-4; CWS3; PGL; PGL1; QPs3; SDH4; cybS
External IDs OMIM602690 MGI1914175 HomoloGene37718 GeneCards: SDHD Gene
EC number 1.3.5.1
Orthologs
Species Human Mouse
Entrez 6392 66925
Ensembl ENSG00000204370 ENSMUSG00000000171
UniProt O14521 Q9CXV1
RefSeq (mRNA) NM_001276503 NM_025848
RefSeq (protein) NP_001263432 NP_080124
Location (UCSC) Chr 11:
111.96 – 111.99 Mb
Chr 9:
50.6 – 50.6 Mb
PubMed search [1] [2]

Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS), also known as succinate dehydrogenase complex subunit D (SDHD), is a protein that in humans is encoded by the SDHD gene.[1][2][3]

SDHD, which stands for succinate dehydrogenase complex subunit D, is one of the two transmembrane subunits of the four-subunit succinate dehydrogenase protein complex that resides in the inner mitochondrial membrane. It also refers to the gene that codes for this protein. The other transmembrane subunit is SDHC. SDHD/SDHC are connected to the SDHB electron transfer subunit. SDHB in turn transfers electrons from the SDHA subunit to the SDHC/SDHD dimer.

Succinate dehydrogenase is an important enzyme in both the citric acid cycle and the electron transfer chain

The SDHD gene is located on chromosome 11, at locus 11q23. Names previously used for SDHD were PGL and PGL1.

Role in disease[edit]

Mutations in the SDHD gene can cause familial paraganglioma.

Germline mutations in SDHD were first linked to hereditary paraganglioma in 2000.[4] Since then, it has been shown that mutations in SDHB and to a lesser degree SDHC can cause paranglioma as well familial pheochromocytoma. Notably, the tumor spectrum is different for the different mutations. SDHB mutations often lead to metastatic disease that is extra-adrenal, while SDHD mutation related tumors are more typically benign, originating in the head and neck.

The exact mechanism for tumorigenesis is not determined, but it is suspected that malfunction of the SDH complex can cause a hypoxic response in the cell that leads to tumor formation. People living at higher altitudes (for example, the Andes mountains) are known to have an increased rate of benign paraganglioma, with the rate of disease increasing with the altitude of the population.

Interactive pathway map[edit]

Click on genes, proteins and metabolites below to link to respective articles. [§ 1]

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TCACycle_WP78 go to article go to article go to article go to article go to HMDB go to article go to article go to article Go to article go to article go to article go to article go to article go to article Go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to HMDB go to article go to article go to HMDB go to article go to article go to HMDB go to article go to article go to HMDB go to article go to article go to article go to article go to article go to article go to article go to article go to article go to article go to WikiPathways go to article go to article go to article go to article
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TCA Cycle edit
  1. ^ The interactive pathway map can be edited at WikiPathways: "TCACycle_WP78". 

References[edit]

  1. ^ "Entrez Gene: succinate dehydrogenase complex". 
  2. ^ Heutink P, van der Mey AG, Sandkuijl LA, van Gils AP, Bardoel A, Breedveld GJ, van Vliet M, van Ommen GJ, Cornelisse CJ, Oostra BA (April 1992). "A gene subject to genomic imprinting and responsible for hereditary paragangliomas maps to chromosome 11q23-qter". Hum. Mol. Genet. 1 (1): 7–10. doi:10.1093/hmg/1.1.7. PMID 1301144. 
  3. ^ Hirawake H, Taniwaki M, Tamura A, Kojima S, Kita K (1997). "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". Cytogenet. Cell Genet. 79 (1-2): 132–8. doi:10.1159/000134700. PMID 9533030. 
  4. ^ Baysal BE, Ferrell RE, Willett-Brozick JE, Lawrence EC, Myssiorek D, Bosch A, van der Mey A, Taschner PE, Rubinstein WS, Myers EN, Richard CW, Cornelisse CJ, Devilee P, Devlin B (February 2000). "Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma". Science 287 (5454): 848–51. doi:10.1126/science.287.5454.848. PMID 10657297. 

Further reading[edit]

External links[edit]