YWHAE/A0280

YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide), also known as A0280, is a member of the 14-3-3 family of proteins, which are known for their capacity to interact with a very large number of signaling ..

YWHAE (tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide), also known as A0280, is a member of the 14-3-3 family of proteins, which are known for their capacity to interact with a very large number of signaling molecules. YWHAE has high levels of expression throughout the brain. Genetic deletion of YWHAE in humans causes severe defects of neuronal migration contributing to Miller-Dieker syndrome, a lissencephaly (meaning ‘smooth brain’) where the sulci (fissures) and gyri (ridges) normally present in the human brain are absent. Those suffering from the syndrome tend to die in infancy or early childhood. Separately, the emergence of 14-3-3 proteins in the cerebrospinal fluid (CSF) of patients suffering from neurodegenerative disorders has been reported. YWHAE is among the 14-3-3 protein isoforms present in the CSF of patients with sporadic Creutzfeldt-Jakob disease.