8dyd: Difference between revisions
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== Disease == | == Disease == | ||
[https://www.uniprot.org/uniprot/SDHA_HUMAN SDHA_HUMAN] | [https://www.uniprot.org/uniprot/SDHA_HUMAN SDHA_HUMAN] Familial isolated dilated cardiomyopathy;Hereditary pheochromocytoma-paraganglioma;Gastrointestinal stromal tumor;Isolated succinate-CoQ reductase deficiency. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. | ||
== Function == | == Function == | ||
[https://www.uniprot.org/uniprot/SDHA_HUMAN SDHA_HUMAN] Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225).<ref>PMID:20484225</ref> <ref>PMID:24781757</ref> | [https://www.uniprot.org/uniprot/SDHA_HUMAN SDHA_HUMAN] Flavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:24781757). Can act as a tumor suppressor (PubMed:20484225).<ref>PMID:20484225</ref> <ref>PMID:24781757</ref> | ||