FBXO24
Description
The FBXO24 (F-box protein 24) is a protein-coding gene located on chromosome 7.
The FBXO24 gene encodes a protein belonging to the F-box protein family. These proteins contain a characteristic F-box motif, approximately 40 amino acids long. They form a subunit of the SCF (SKP1-cullin-F-box) ubiquitin protein ligase complex, which plays a crucial role in phosphorylation-dependent ubiquitination. FBXO24 falls under the Fbxs class, which lacks WD-40 domains, leucine-rich repeats, or recognizable motifs. Alternative splicing produces two transcript variants for this gene.
FBXO24 acts as a substrate-recognition component within the SCF (SKP1-CUL1-F-box protein)-type E3 ubiquitin ligase complex.
FBXO24 is also known as FBX24.
Associated Diseases
- female infertility due to oocyte meiotic arrest
- male infertility with teratozoospermia due to single gene mutation
- oocyte maturation defect 9
- partial chromosome Y deletion
- premature ovarian failure 19
- deafness-infertility syndrome
- spermatogenic failure 61
- spermatogenic failure 74
