FBXO32

The encoded protein functions as a substrate recognition component of the SCF E3 ubiquitin-protein ligase complex, mediating ubiquitination and proteasomal degradation of target proteins involved in skeletal muscle atrophy, macrophage function, and cell cycle regulation. Mutations in this gene cause autosomal dominant or recessive neurodevelopmental disorders with variable features including intellectual disability, developmental delay, and potentially muscle-related phenotypes. This gene is highly constrained against loss-of-function variants (pLI 0.997, LOEUF 0.222), indicating that complete loss of protein function is likely incompatible with normal development.