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succinate dehydrogenase complex, subunit D, integral membrane protein
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| Identifiers | |
| Symbol | SDHD |
| Alt. Symbols | PGL, PGL1 |
| Entrez | 6392 |
| HUGO | 10683 |
| OMIM | 602690 |
| RefSeq | NM_003002 |
| UniProt | O14521 |
| Other data | |
| Locus | Chr. 11 q23 |
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. The Entrez Global Query Cross-Database Search System is a powerful Federated search engine or Web portal that allows users to search many discrete Health sciences The Human Genome Organisation (HUGO is an organization involved in the Human Genome Project, a project about mapping the human genome The Mendelian Inheritance in Man project is a Database that catalogues all the known Diseases with a genetic component, and—when possible—links them The National Center for Biotechnology Information ( NCBI) is part of the United States National Library of Medicine (NLM a branch of the National Institutes Swiss-Prot is a manually curated Biological database of Protein sequences In the fields of Genetics and Evolutionary computation, a locus (plural loci) is a fixed position on a Chromosome such as the position of a Chromosome 11 is one of the 23 pairs of Chromosomes in Humans People normally have two copies of this chromosome Succinate-coenzyme Q reductase ( EC 1351; succinate dehydrogenase) is an Enzyme complex bound to the inner Mitochondrial membrane Succinate-coenzyme Q reductase ( EC 1351; succinate dehydrogenase) is an Enzyme complex bound to the inner Mitochondrial membrane In Cell biology, a mitochondrion (plural mitochondria) is a membrane-enclosed Organelle found in most eukaryotic cells. It also refers to the gene that codes for this protein. History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance The other transmembrane subunit is SDHC. SDHD/SDHC are connected to the SDHB electron transfer subunit. SDHB is an acronym for succinate dehydrogenase complex subunit B. SDHB in turn transfers electrons from the SDHA subunit to the SDHC/SDHD dimer. SDHA is an acronym for succinate dehydrogenase complex subunit A. A dimer is a Chemical or Biological entity consisting of two subunits called Monomers which are held together by either Intramolecular forces
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. Enzymes are Biomolecules that catalyze ( ie increase the rates of Chemical reactions Almost all enzymes are Proteins The citric acid cycle, also known as the tricarboxylic acid cycle ( TCA cycle) or the Krebs cycle, (or rarely the Szent-Györgyi–Krebs cycle An electron transport chain couples a chemical reaction between an electron donor (such as NADH) and an electron acceptor (such as O2) to the transfer Names previously used for SDHD were PGL and PGL1.
Role in disease
Mutations in the SDHD gene can cause familial paraganglioma. History See also History of genetics The existence of genes was first suggested by Gregor Mendel (1822-1884 who in the 1860s studied inheritance A paraganglioma is a rare Neoplasm that can be found in the abdomen thorax and in the head and neck region
Germline mutations in SDHD were first linked to hereditary paraganglioma in 2000. [1] Since then, it has been shown that mutations in SDHB and to a lesser degree SDHC can cause paranglioma as well familial pheochromocytoma. A phaeochromocytoma ( pheochromocytoma in the US is a Neuroendocrine tumor of the medulla of the Adrenal glands (originating in the Chromaffin 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. Chronic Hypoxia is a pathological condition in which the body as a whole ( generalized hypoxia) or region of the body ( tissue hypoxia) is deprived of adequate 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 poplulation.
References
- ^ Baysal, B. E. et al. 2000. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science. Vol. 287 pg. 848- 851.
External links
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