Aliases for SDHD Gene
External Ids for SDHD Gene
Previous Symbols for SDHD Gene
This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of 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 paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2013]
GeneCards Summary for SDHD Gene
SDHD (Succinate Dehydrogenase Complex, Subunit D, Integral Membrane Protein) is a Protein Coding gene. Diseases associated with SDHD include cowden syndrome 3 and cerebellopontine angle tumor. Among its related pathways are Metabolism and Metabolism. GO annotations related to this gene include electron carrier activity and ubiquinone binding. An important paralog of this gene is ENSG00000255292.
UniProtKB/Swiss-Prot for SDHD Gene
Membrane-anchoring 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).