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SDHD
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SDHD
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SDHD
This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation ofsuccinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix sideof the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors,including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternalallele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene onchromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. (provided byRefSeq, Feb 2013)This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation ofsuccinate
The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix sideof the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors,including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternalallele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene onchromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. (provided byRefSeq, Feb 2013)
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