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SDHD succinate dehydrogenase complex subunit D

Also known as: PGL; CBT1; CWS3; PGL1; QPs3; SDH4; cybS; CII-4

Summary

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]

Copy number response

Description
Copy number response
Triplosensitivity

No evidence available (Last evaluated (2015-08-13)

ClinGen Genome Curation Page
Haploinsufficency

Sufficient evidence for dosage pathogenicity (Last evaluated (2015-08-13)

ClinGen Genome Curation PagePubMed

Genomic context

Location:
11q23.1
Sequence:
Chromosome: 11; NC_000011.10 (112086824..112095801)
Total number of exons:
6

Links

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