SDHD succinate dehydrogenase complex subunit D

Gene ID: 6392, updated on 21-May-2024
Gene type: protein coding
Also known as: PGL; CBT1; CWS3; PGL1; QPs3; SDH4; cybS; CII-4; PPGL1; MC2DN3

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Carney-Stratakis syndrome MedGen: C1847319OMIM: 606864GeneReviews: Not available	See labs
Mitochondrial complex 2 deficiency, nuclear type 3 MedGen: C5436934OMIM: 619167GeneReviews: Not available	See labs
Paragangliomas 1 MedGen: C3494181OMIM: 168000GeneReviews: Hereditary Paraganglioma-Pheochromocytoma Syndromes	See labs

Copy number response

Description
Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-08-11) ClinGen Genome Curation PagePubMed Triplosensitivity No evidence available (Last evaluated 2021-08-11) ClinGen Genome Curation Page

Genomic context

Location:: 11q23.1

Sequence:: Chromosome: 11; NC_000011.10 (112086873..112095794)

Total number of exons:: 6

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for SDHD variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
TCA Cycle Gene Mutation Database (SDHD)
Variation Viewer
Related Variants

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