Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
54949 11 11q12.2 NM_017841 Tumor suppressor (PMID: 30606230)
Additional content available in CKB BOOST