Gene Detail
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| Gene Symbol | SDHAF2 | ||||||||||
| Synonyms | C11orf79 | hSDH5 | PGL2 | PPGL2 | SDH5 | ||||||||||
| Gene Description | SDHAF2, succinate dehydrogenase complex assembly factor 2, is an assembly factor that acts as a chaperone for SDHA flavinylation and plays a role in maturation of mitochondrial respiratory complex II (PMID: 32887801, PMID: 19628817). Germline mutations in SDHAF2 have been associated with head and neck paraganglioma (PMID: 19628817, PMID: 21224366, PMID: 31687641). | ||||||||||
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