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NIPAL4 likely encodes a membrane receptor. Additionally we are shipping NIPA-Like Domain Containing 4 Proteins (3) and many more products for this protein.
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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 (show LBR Antibodies).
FATP4 (show SLC27A4 Antibodies), ichthyin and TGM1 (show TGM1 Antibodies) interact in lipid processing essential for maintaining the epidermal barrier function
Autosomal recessive congenital ichthyosis (show LBR Antibodies) patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX (show ALOX12B Antibodies) and eLOX-3 (show ALOXE3 Antibodies) 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 (show LBR Antibodies).
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 (show LBR Antibodies) (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 (show LBR Antibodies) 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