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succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa

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NCBI Description of SDHC

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. ;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.

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

SDHC is highly significantly mutated in
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SDHC is significantly mutated in
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SDHC is near significance in
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Data details


Mutation list for SDHC