SDHC succinate dehydrogenase complex subunit C
Gene ID: 6391, updated on 13-Apr-2024Gene type: protein coding
Also known as: CYBL; PGL3; QPS1; SDH3; PPGL3; CYB560
- See all available tests in GTR for this gene
- Go to complete Gene record for SDHC
- Go to Variation Viewer for SDHC variants
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 | See labs |
| Gastrointestinal stroma tumor | 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 | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2021-10-13) ClinGen Genome Curation PageHaploinsufficency 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SDHC variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- TCA Cycle Gene Mutation Database (SDHC)
- Variation ViewerRelated Variants
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