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NIPAL4 likely encodes a membrane receptor. De plus, nous expédions NIPA-Like Domain Containing 4 Anticorps (12) et beaucoup plus de produits pour cette protéine.
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Case Report: novel NIPAL4 mutation in Japanese female with ichthyosiform erythroderma.
We have identified a novel NIPAL4 mutation in two patients from Romania with autosomal recessive congenital ichthyosis.
FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function
Autosomal recessive congenital ichthyosis patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX and eLOX-3 staining and a colocalization signal of these lipoxygenases that was three times the normal intensity.
combined findings indicate that ichthyin is associated with keratins and desmosomes in epidermis and is involved in lipid metabolism, possibly through processing of lamellar bodies
diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation
A recurrent missense mutation, p.A176D, was identified in individuals with autosomal recessive ichthyosis.
Six homozygous mutations including one nonsense and five missense mutations were identified in a new gene, ichthyin, on chromosome 5q33 in patients with autosomal recessive congenital ichthyosis (ichthyin).
mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis by mildly affecting the expression of retinoid- regulated genes in epidermis.
This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis.
NIPA-like protein 4
, magnesium transporter NIPA4
, non-imprinted in Prader-Willi/Angelman syndrome region protein 4
, non-imprinted in Prader-Willi/Angelman syndrome region protein 4 homolog