Biology:NIPAL4
 Generic protein structure example |
Nipa‐Like Domain‐Containing 4, also known as NIPAL4 or Ichthyin, is a gene that is predicted to code 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 less 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 results 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 2nd 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 "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. October 2004. doi:10.1093/hmg/ddh263. PMID 15317751.
- ↑ "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. 2010. doi:10.1159/000265757. PMID 20016120.
- ↑ "Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)-Deficient Canines". The American Journal of Pathology 188 (6): 1419–1429. June 2018. doi:10.1016/j.ajpath.2018.02.008. PMID 29548991.
- ↑ 4.0 4.1 "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. December 2019. doi:10.1002/humu.23883. PMID 31347739.
- ↑ "Genetics of Inherited Ichthyoses and Related Diseases". Acta Dermato-Venereologica 100 (7): adv00096-196. March 2020. doi:10.2340/00015555-3432. PMID 32147747.
 |  |
