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Gene Review

NIPAL4  -  NIPA-like domain containing 4

Homo sapiens

Synonyms: ARCI6, ICHN, ICHTHYIN, ICHYN, Ichthyin, ...
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Disease relevance of ICHTHYIN


High impact information on ICHTHYIN

  • We propose that ichthyin and NIPA1 are membrane receptors for ligands (trioxilins A3 and B3) from the hepoxilin pathway [1].
  • Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in 23 patients from 14 consanguineous families from Algeria, Colombia, Syria and Turkey [1].
  • Ichthyin encodes a protein with several transmembrane domains which belongs to a new family of proteins of unknown function localized in the plasma membrane (PFAM: DUF803), with homologies to both transporters and G-protein coupled receptors [1].


  1. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Lefèvre, C., Bouadjar, B., Karaduman, A., Jobard, F., Saker, S., Ozguc, M., Lathrop, M., Prud'homme, J.F., Fischer, J. Hum. Mol. Genet. (2004) [Pubmed]
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