NIPA-Like Domain Containing 4 Proteins (NIPAL4)

Human NIPA-Like Domain Containing 4 (NIPAL4) interaction partners

1. Case Report: novel NIPAL4 mutation in Japanese female with ichthyosiform erythroderma.

2. We have identified a novel NIPAL4 mutation in two patients from Romania with autosomal recessive congenital ichthyosis (show LBR Proteins).

3. FATP4 (show SLC27A4 Proteins), ichthyin and TGM1 (show TGM1 Proteins) interact in lipid processing essential for maintaining the epidermal barrier function

4. Autosomal recessive congenital ichthyosis (show LBR Proteins) patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX (show ALOX12B Proteins) and eLOX-3 (show ALOXE3 Proteins) staining and a colocalization signal of these lipoxygenases that was three times the normal intensity.

5. 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

6. diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation

7. A recurrent missense mutation, p.A176D, was identified in individuals with autosomal recessive ichthyosis (show LBR Proteins).

8. 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 Proteins) (ichthyin).

9. mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis

10. The results suggest that liarozole exerts a therapeutic effect in lamellar ichthyosis (show LBR Proteins) by mildly affecting the expression of retinoid- regulated genes in epidermis.