Molecular characteristics

SLC31A1codes for the CTR1 copper transporter found in all phylla. The two loss-of-function mutations identified so far lead to low intracellular copper concentrations. Copper and ceruloplasmin blood concentrations appear to be low at birth (CTR1 important for materno-fetal copper transfer?) but normal in late infancy (intestinal copper uptake under the control of ATP7A, which is deficient in Menkes disease).