From Wikipedia, the free encyclopedia
Gene
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 .
[5] 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 .
[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] There is also evidence that NIPAL4 is involved in the synthesis of
very long chain fatty acids involved in the epidermal
lipid metabolism .
[7] Disruptions to this pathway results in impaired skin function, causing the symptoms of
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] Since its first identification in 2004, 18 disease‐causing mutations have been reported in 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 .