FBXO43

Description

The FBXO43 (F-box protein 43) is a protein-coding gene located on chromosome 8.

FBXO43 is essential for maintaining oocytes in a state of arrest at the second meiotic metaphase until fertilization occurs. It achieves this by inhibiting the activity of the anaphase-promoting complex/cyclosome (APC/C) ubiquitin ligase. This protein likely binds to phosphorylated proteins, promoting their ubiquitination and degradation, which is crucial for regulating the levels of CCNB1 and CDK1 during gametogenesis.

FBXO43 is also known as EMI2, ERP1, FBX43, OOMD12, OZEMA12, SPGF64.

Associated Diseases

• Male infertility with azoospermia or oligozoospermia due to single gene mutation
• Spermatogenic failure 64
• Oocyte maturation defect 12