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SDHC succinate dehydrogenase complex subunit C

Gene ID: 6391, updated on 21-Mar-2023
Gene type: protein coding
Also known as: CYBL; PGL3; QPS1; SDH3; CYB560


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. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]

Associated conditions

See all available tests in GTR for this gene

Carney-Stratakis syndrome
MedGen: C1847319OMIM: 606864GeneReviews: Not available
See labs
Gastrointestinal stromal tumor
MedGen: C0238198OMIM: 606764GeneReviews: Not available
See labs
Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
GeneReviews: Not available
Paragangliomas 3See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2021-10-13)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 1; NC_000001.11 (161314381..161363206)
Total number of exons:


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