NIPAL4
Nipa‐Like Domain‐Containing 4, also known as NIPAL4 or Ichthyin, is a gene that is predicted to encode for a transmembrane protein with nine transmembrane domains.[1] NIPAL4 codes for the protein magnesium transporter NIPA4, which acts as a Mg2+ transporter.
Expression
NIPAL4 is mainly expressed in the skin, specifically in the granular layer of the epidermis.[2]
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 lesser extent than Mg2+.[1] There is also evidence that NIPAL4 is involved in the synthesis of very long chain fatty acids involved in the epidermal lipid metabolism.[3] Disruptions to this pathway result in impaired skin function, causing the symptoms of ARCI.[4]
Pathology
Mutations in this gene account for 16% of autosomal recessive congenital ichthyosis (ARCI) cases, making it the second most common gene involved with this disease.[5] Since its first identification in 2004, 18 disease‐causing mutations have been reported in NIPAL4.[4]
See Also
References
- ↑ 1.0 1.1 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.
- ↑ 4.0 4.1 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. doi:10.2340/00015555-3432. PMID 32147747 Check
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CategoryGene CategoryGenes on human chromosome 5
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