Recombinant Human Succinate dehydrogenase assembly factor 2, mitochondrial (SDHAF2)

1. Loss of SDHAF2 gene is associated with paragangliomas. PMID: 28099933
2. The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to hereditary pheochromocytoma and paraganglioma. PMID: 28384794
3. data show that SDHA flavination is independent of SDHAF2 in breast cancer cells, employing an alternative mechanism. PMID: 27587393
4. FAD interacts noncovalently with SDHA in the absence of SDH5 PMID: 27296776
5. Autosomal dominant susceptibility for Paraganglioma is modified by imprinting and mutations in the SDHAF2 gene cause Paragangliomas only when the mutation is inherited from father. PMID: 24973967
6. Loss of heterozygosity was found in more than 50 % of the von Hippel-Lindau-associated pheochromocytomas, and was correlated with a significant decrease (p < 0.05) in both SDHAF2 and SDHD mRNA expression, which may be suggestive of a pathogenic role. PMID: 24322175
7. New mutation found in SDHAF2 gene in pheochromocytoma/paraganglioma patients. PMID: 24712571
8. Data indicate that SDH5 is protected from mitochondrial LON (LONM)-mediated degradation in mitochondria by its stable interaction with SDHA, a state that is dysregulated in hereditary paraganglioma 2 (PGL2). PMID: 24414418
9. Data indicate that succinate dehydrogenase 5 (SDH5) functions as a critical protein in regulating epithelial-mesenchymal transition (EMT) by modulating the glycogen synthase kinase (GSK)-3beta-beta-catenin signaling pathway. PMID: 23983127
10. Studies indicate that mutations in the mitochondrial complex II structural subunit genes SDHB, SDHC and SDHD and the regulatory subunit gene SDHAF2 in many paraganglioma families. PMID: 23291190
11. Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade. PMID: 23174333
12. Studies indicate that the flavinylation factor Sdh5 (SDHAF2) provided insight into the possible mechanism associated with Sdh1 (SDHA) flavinylation. PMID: 23380393
13. We established the SDHAF2 mutation status of PGL2 family members PMID: 21224366
14. Somatic mutations of the SDHAF2 tumor suppressor gene are unlikely to frequently contribute to parathyroid tumor development in sporadic primary hyperparathyroidism. PMID: 20972721
15. germline loss-of-function mutations in the SDH5 gene segregate with disease in a family with hereditary paraganglioma PMID: 19628817

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HGNC: 26034

OMIM: 601650

KEGG: hsa:54949

STRING: 9606.ENSP00000301761

UniGene: Hs.313247