Gene
Nipa‐Like Domain‐Containing 4 , also known as NIPAL4 Ichthyin , is a gene that is predicted to code for a transmembrane protein with nine transmembrane domains .[5] NIPAL4 codes for the protein magnesium transporter NIPA4Mg2+ transporter.
Expression NIPAL4 is mainly expressed in the skin, specifically in the granular layer of the epidermis .[6]
Function NIPAL4 codes for a magnesium transporter that can also transport other divalent cations such as Ba2+ , Mn2+ , Sr2+ and Co2+ , though to a much less extent than Mg2+ .[5] NIPAL4 is involved in the synthesis of very long chain fatty acids involved in the epidermal lipid metabolism .[7] ARCI .[8]
Pathology Mutations in this gene account for 16% of autosomal recessive congenital ichthyosis (ARCI) cases, making it the 2nd most common gene involved with this disease.[9] NIPAL4 .[8]
See also References
^ a b c GRCh38: Ensembl release 89: ENSG00000172548 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020411 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ a b Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, et al. (October 2004). "Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis" . Human Molecular Genetics . 13 (20): 2473–82. doi :10.1093/hmg/ddh263 PMID 15317751 . ^ Wajid M, Kurban M, Shimomura Y, Christiano AM (2010). "NIPAL4/ichthyin is expressed in the granular layer of human epidermis and mutated in two Pakistani families with autosomal recessive ichthyosis" . Dermatology . 220 (1): 8–14. doi :10.1159/000265757 . PMC 2855276 PMID 20016120 . ^ Mauldin EA, Crumrine D, Casal ML, Jeong S, Opálka L, Vavrova K, et al. (June 2018). "Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines" . The American Journal of Pathology . 188 (6): 1419–1429. doi :10.1016/j.ajpath.2018.02.008 . PMC 5971224 PMID 29548991 . ^ a b Ballin N, Hotz A, Bourrat E, Küsel J, Oji V, Bouadjar B, et al. (December 2019). "Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4" . Human Mutation . 40 (12): 2318–2333. doi :10.1002/humu.23883 PMID 31347739 . ^ Fischer J, Bourrat E (March 2020). "Genetics of Inherited Ichthyoses and Related Diseases" . Acta Dermato-Venereologica . 100 (7): adv00096-196. doi :10.2340/00015555-3432 PMC 9128940 PMID 32147747 . 
