FBXO43

Chr 8AR

F-box protein 43

Also known as: EMI2, ERP1, FBX43, OOMD12, OZEMA12, SPGF64

NCBI Gene: 286151 ENSG00000156509 UniProt: Q4G163 OMIM: 609110

FBXO43 encodes an F-box protein that functions as part of SCF ubiquitin ligase complexes and is specifically required to maintain arrest of oocytes at the second meiotic metaphase until fertilization by inhibiting the anaphase-promoting complex. Biallelic mutations cause autosomal recessive oocyte/zygote/embryo maturation arrest and spermatogenic failure, affecting reproductive function rather than neurological development. This gene shows low constraint against loss-of-function variants (pLI near 0), consistent with its specialized role in gametogenesis.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Members of the F-box protein family, such as FBXO43, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…