DISEASES

Disease-gene associations mined from literature

Literature associating FBXO43 and cardiofaciocutaneous syndrome 2

FBXO43 [ENSP00000403293]

F-box only protein 43; Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. Probably acts by inhibiting the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. Probably recognizes and binds to some phosphorylated proteins and promotes their ubiquitination and degradation (Probable).

Synonyms:  FBXO43,  FBXO43p,  hFBXO43,  E5RHI5,  Q4G163 ...

Linkouts:  STRING  Pharos  UniProt  OMIM