Analysis of SDHAF3 in familial and sporadic pheochromocytoma and paraganglioma.
Trisha DwightUn NaEdward KimYing ZhuAnne Louise RichardsonBruce G RobinsonKatherine M TuckerAnthony J GillDiana E BennRoderick J Clifton-BlighDennis R WingePublished in: BMC cancer (2017)
Our studies reveal novel insights into the biogenesis of SDH, uncovering a vital interaction between SDHAF3 and SDHB. We have shown that SDHAF3 interacts directly with SDHB (residue 242 being key to this interaction), and that a variant in SDHAF3 (c.157 T > C [p.Phe53Leu]) may be more prevalent in individuals with PC/PGL, and is hypomorphic via impaired interaction with SDHB.