Aliases for NIPAL4 Gene
External Ids for NIPAL4 Gene
Previous GeneCards Identifiers for NIPAL4 Gene
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
GeneCards Summary for NIPAL4 Gene
NIPAL4 (NIPA Like Domain Containing 4) is a Protein Coding gene. Diseases associated with NIPAL4 include Ichthyosis, Congenital, Autosomal Recessive 6 and Autosomal Recessive Congenital Ichthyosis. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Miscellaneous transport and binding events. Gene Ontology (GO) annotations related to this gene include magnesium ion transmembrane transporter activity. An important paralog of this gene is NIPAL1.
UniProtKB/Swiss-Prot Summary for NIPAL4 Gene
Acts as a Mg(2+) transporter. 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+) (By similarity). May be a receptor for ligands (trioxilins A3 and B3) from the hepoxilin pathway.