NIPAL4 acts as a Mg(2+) transporter and can also transport other divalent cations such as Ba(2+), Mn(2+), Sr(2+) and Co(2+) but to a much less extent than Mg(2+). NIPAL4 may also be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway. The NIPAL4 gene likely encodes a membrane receptor. Mutations in the NIPAL4 gene have been associated with autosomal recessive congenital ichthyosis. Diseases associated with NIPAL4 include Ichthyosis, Congenital, Autosomal Recessive 6 and Autosomal Recessive Congenital Ichthyosis.
Ichthyin; Magnesium transporter NIPA4; Magnesium Transporter NIPA4 (extracellular); NIPA-like domain containing 4; NIPA-like protein 4; Non-imprinted in Prader-Willi/Angelman syndrome region protein 4; Non-imprinted in Prader-Willi/Angelman syndrome region protein 4 homolog