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SDHB succinate dehydrogenase complex iron sulfur subunit B

Gene ID: 6390, updated on 17-Apr-2023
Gene type: protein coding
Also known as: IP; SDH; CWS2; PGL4; SDH1; SDH2; SDHIP; MC2DN4


This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits. This enzyme complex converts succinate to fumarate which releases electrons as part of the citric acid cycle, and the enzyme complex additionally provides an attachment site for released electrons to be transferred to the oxidative phosphorylation pathway. The SDH enzyme complex plays a role in oxygen-related gene regulation through its conversion of succinate, which is an oxygen sensor that stabilizes the hypoxia-inducible factor 1 (HIF1) transcription factor. Sporadic and familial mutations in this gene result in paragangliomas, pheochromocytoma, and gastrointestinal stromal tumors, supporting a link between mitochondrial dysfunction and tumorigenesis. Mutations in this gene are also implicated in nuclear type 4 mitochondrial complex II deficiency. [provided by RefSeq, Jun 2022]

Associated conditions

See all available tests in GTR for this gene

A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
GeneReviews: Not available
Carney-Stratakis syndrome
MedGen: C1847319OMIM: 606864GeneReviews: Not available
See labs
Gastrointestinal stromal tumor
MedGen: C0238198OMIM: 606764GeneReviews: Not available
See labs
Mitochondrial complex 2 deficiency, nuclear type 4
MedGen: C5543176OMIM: 619224GeneReviews: Not available
See labs
Paragangliomas 4See labs
PheochromocytomaSee labs

Copy number response

Copy number response

No evidence available (Last evaluated 2020-07-22)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-07-22)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 1; NC_000001.11 (17018722..17054032, complement)
Total number of exons:


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