F-box proteins act as the protein recognition component of the Skp-Cul-F-box class of ubiquitin ligases. Two members of a gene sub-family encoding these proteins, FBXO7 and FBXO32, have been implicated in the onset and progression of degenerative disease. FBXO7 is responsible for rare genetic forms of Parkinson disease, while FBXO32 has been implicated in muscle wasting. The third gene in this family, FBXO9, is related to growth signaling, but the role of this gene in degenerative disease pathways has not been thoroughly investigated.
E3 ubiquitin ligase
This study aimed to explore the association between ring finger protein 41 (RNF41) c.-206 T > A variant and susceptibility to congenital heart disease (CHD) in the Chinese Mongolian population. The association between RNF41 gene c.-206 T > A polymorphism and CHD was examined in two independent case-control studies consisting of 219 CHD patients and 208 healthy controls. Genotype was determined by direct sequencing of PCR products.