SDHC Protéines

This gene encodes one of four nuclear-encoded subunits that comprise succinate dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. Several related pseudogenes are located in different genomic regions. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008].