Ubiquitin protein The mechanism (or pathogenesis) of<unk>  appears to begin due to a mutation in the E3 ubiquitin protein ligase. (UBE3B). One finds that the normal mechanism of UBE3B gene is important in the ubiquitin-proteasome system. The aforementioned system helps to remove proteins that have degraded. However, when not working properly due to the mutation in the UBE3B gene(at least 15 mutations) results in an unstable UBE3B protein which has a negative effect on the ubiquitin-proteasome system.
Kaufman oculocerebrofacial syndrome
Smith Martin Dodd syndrome
Joubert syndrome
Foster Kennedy syndrome
TORCH syndrome
Axenfeld–Rieger syndrome
Ring chromosome 14 syndrome
Ring chromosome 20 syndrome