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SDHB succinate dehydrogenase complex iron sulfur subunit B

Gene ID: 6390, updated on 5-Jan-2022
Gene type: protein coding
Also known as: IP; SDH; CWS2; PGL4; SDH1; SDH2; SDHIP; MC2DN4

Summary

Complex II of the respiratory chain, which is specifically involved in the oxidation of succinate, carries electrons from FADH to CoQ. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. The iron-sulfur subunit is highly conserved and contains three cysteine-rich clusters which may comprise the iron-sulfur centers of the enzyme. Sporadic and familial mutations in this gene result in paragangliomas and pheochromocytoma, and support a link between mitochondrial dysfunction and tumorigenesis. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
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: CN295804OMIM: 619224GeneReviews: Not available
See labs
Paragangliomas 4See labs
PheochromocytomaSee labs

Copy number response

Description
Copy number response
Triplosensitivity

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

ClinGen Genome Curation Page
Haploinsufficency

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

ClinGen Genome Curation PagePubMed

Genomic context

Location:
1p36.13
Sequence:
Chromosome: 1; NC_000001.11 (17018722..17054032, complement)
Total number of exons:
8

Links

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