F-box only protein 28 (FBXO28)

F-box only protein 28 (FBXO28) is a member of the F-box protein family characterized by a conserved F-box motif of about 40 amino acids, enabling assembly into the SCF (SKP1–CUL1–F-box protein) E3 ubiquitin ligase complex[1][3][6]. As part of this complex, FBXO28 serves as a substrate-recognition component, interacting with SKP1 and cullin proteins to mediate ubiquitination and subsequent degradation of target proteins, often recognizing phosphorylated substrates[1][3]. FBXO28 has functional roles in regulating protein stability, mitotic progression, cell cycle transitions, and DNA decatenation through regulation of topoisomerase IIα activity[5][8]. Loss-of-function mutations or deletions in FBXO28 are implicated in developmental and epileptic encephalopathy 100, intellectual disability, seizures, and brain abnormalities, particularly as a driver gene in chromosome 1q41q42 microdeletion syndrome[3][4]. FBXO28 is essential for normal neurodevelopment but, as of now, there are no specific drugs known to target this protein directly, nor defined pharmacological mechanisms of action[3][4][7].

Other names

FBXO28F-box protein 28CENP-30Fbx28KIAA0483FLJ10766centromere protein 30DEE100