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@jax.org

Gene Symbol SDHA
Synonyms CMD1GG | FP | MC2DN1 | NDAXOA | PGL5 | PPGL5 | SDH1 | SDH2 | SDHF
Gene Description SDHA, succinate dehydrogenase complex flavoprotein subunit A, is the major catalytic subunit in mitochondrial complex II that catalyzes electron transfer from succinate to ubiquinone (PMID: 21771581). SDHA germline and somatic loss of function mutations have been identified in paragangliomas (PMID: 24781757, PMID: 20484225, PMID: 32295730) and gastrointestinal stromal tumors (PMID: 24781757, PMID: 23730622), and overexpression has been reported in metastatic uveal melanoma (PMID: 31596927).
Additional content available in CKB BOOST