Nipa‐Like Domain‐Containing 4, also known as ''NIPAL4'' or ''Ichthyin'', is a
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
that is predicted to
code
In communications and information processing, code is a system of rules to convert information—such as a letter, word, sound, image, or gesture—into another form, sometimes shortened or secret, for communication through a communicati ...
for a
transmembrane protein
A transmembrane protein is a type of integral membrane protein that spans the entirety of the cell membrane. Many transmembrane proteins function as gateways to permit the transport of specific substances across the membrane. They frequently un ...
with nine
transmembrane domains
A transmembrane domain (TMD, TM domain) is a membrane-spanning protein domain. TMDs may consist of one or several alpha-helices or a transmembrane beta barrel. Because the interior of the lipid bilayer is hydrophobic, the amino acid residues in ...
.
''NIPAL4'' codes for the protein
magnesium
Magnesium is a chemical element; it has Symbol (chemistry), symbol Mg and atomic number 12. It is a shiny gray metal having a low density, low melting point and high chemical reactivity. Like the other alkaline earth metals (group 2 ...
transporter NIPA4, which acts as a transporter.
Expression
''NIPAL4'' is mainly expressed in the skin, specifically in the
granular layer of the
epidermis
The epidermis is the outermost of the three layers that comprise the skin, the inner layers being the dermis and Subcutaneous tissue, hypodermis. The epidermal layer provides a barrier to infection from environmental pathogens and regulates the ...
.
Function
''NIPAL4'' codes for a magnesium transporter that can also transport other
divalent cations such as Ba
2+, Mn
2+, Sr
2+ and Co
2+, though to a much less extent than Mg
2+.
There is also evidence that ''NIPAL4'' is involved in the synthesis of
very long chain fatty acids involved in the epidermal
lipid metabolism
Lipid metabolism is the synthesis and degradation of lipids in cells, involving the breakdown and storage of fats for energy and the synthesis of structural and functional lipids, such as those involved in the construction of cell membranes. In ani ...
. Disruptions to this pathway results in impaired skin function, causing the symptoms of
ARCI.
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.
Since its first identification in 2004, 18 disease‐causing mutations have been reported in ''NIPAL4''.
See also
*
Lamellar Ichthyosis
Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.
Presentation
Affected babies are born in a collodion membrane – a shiny, wa ...
*
Congenital ichthyosiform erythroderma
A birth defect is an abnormal condition that is present at birth, regardless of its cause. Birth defects may result in disabilities that may be physical, intellectual, or developmental. The disabilities can range from mild to severe. Birth ...
*
Ichthyosis
Ichthyosis is a family of genetic disorder, genetic skin disorders characterized by Xeroderma, dry, Scleroderma, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cau ...
*
Skin
Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation.
Other animal coverings, such as the arthropod exoskeleton, have different ...
References
{{reflist
Genes
Genes on human chromosome 5