DNAJC12 p.Asp44Gly associated with mild hyperphenylalaninemia and migraine-like headaches: Structural and deep learning analyses
Objective DNAJC12 encodes a J-domain co-chaperone involved in the function of aromatic amino acid hydroxylases, and its deficiency is associated with hyperphenylalaninemia (HPA) and monoamine neurotransmitter deficiency. We assessed a DNAJC12 c.131A > G (p.Asp44Gly, D44G) variant identified in a 19-year-old man who pre...