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SDHAF2 succinate dehydrogenase complex assembly factor 2

Gene ID: 54949, updated on 29-Mar-2023
Gene type: protein coding
Also known as: PGL2; SDH5; hSDH5; C11orf79


This gene encodes a mitochondrial assembly factor needed for the flavination of a succinate dehydrogenase complex subunit (SDHA), which is required for activity of the succinate dehydrogenase complex. Mutations in this gene are associated with paraganglioma. [provided by RefSeq, May 2022]

Copy number response

Copy number response

No evidence available (Last evaluated 2022-05-11)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2022-05-11)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 11; NC_000011.10 (61430124..61446733)
Total number of exons:


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