DISEASES

Disease-gene associations mined from literature

Literature associating NIPAL4 and autosomal recessive congenital ichthyosis

NIPAL4 [ENSP00000311687]

Non-imprinted in Prader-Willi/Angelman syndrome region protein 4; 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.

Synonyms:  NIPAL4,  NIPAL4p,  hNIPAL4,  H0YC31,  Q0D2K0 ...

Linkouts:  STRING  Pharos  UniProt  OMIM