F-box only protein 43
Definition:
Required to establish and maintain the arrest of oocytes at the second meiotic metaphase until fertilization. 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. Plays a vital role in modulating the ubiquitilation of CCNB1 and CDK1 during gametogenesis.
参考文献:
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[1]. Huan Wu, et al. A homozygous loss-of-function mutation in FBXO43 causes human non-obstructive azoospermia. Clin Genet. 2022 Jan;101(1):55-64. [Content Brief]
[2]. Weijie Wang, et al. FBXO43 variants in patients with female infertility characterized by early embryonic arrest. Hum Reprod. 2021 Jul 19;36(8):2392-2402. [Content Brief]
生物医学辞典
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