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

Summary

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

Description	Tests
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 3 MedGen: C1854336OMIM: 605373GeneReviews: Hereditary Paraganglioma-Pheochromocytoma Syndromes	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2021-10-13) ClinGen Genome Curation Page Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-10-13) ClinGen Genome Curation PagePubMed

Genomic context

Location:: 1q23.3

Sequence:: Chromosome: 1; NC_000001.11 (161314381..161363206)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	GeneView Report Go to Variation Viewer for SDHC variants
1000 Genomes	See 1000 Genomes Browser (GRCh37.p13)

Links

BioSystems
BioSystems
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
SNP: GeneView
SNPs linked from GeneView
TCA Cycle Gene Mutation Database (SDHC)

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