NIPA-Like Domain Containing 4 Protéines (NIPAL4)

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.

afficher tous les protéines Gène GeneID UniProt
NIPAL4 348938 Q0D2K0
NIPAL4 214112 Q8BZF2
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Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Souris rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Connectez-vous pour afficher 50 to 55 Days
$5,262.31
Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 50 Days
$6,749.58
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NIPAL4 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human
,
Mouse (Murine)

Plus protéines pour NIPA-Like Domain Containing 4 (NIPAL4) partenaires d'interaction

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.

  3. FATP4, ichthyin and TGM1 interact in lipid processing essential for maintaining the epidermal barrier function

  4. 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.

  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.

  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 (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 by mildly affecting the expression of retinoid- regulated genes in epidermis.

Mouse (Murine) NIPA-Like Domain Containing 4 (NIPAL4) interaction partners

  1. NIPAL4 is a putative Mg(2+) transporter, and Mg(2+) concentration in differentiated keratinocytes of Nipal4-KO mice was indeed lower than that of wild-type mice.

Profil protéine NIPA-Like Domain Containing 4 (NIPAL4)

Profil protéine

This gene likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis.

Gene names and symbols associated with NIPAL4

  • NIPA like domain containing 4 (NIPAL4)
  • NIPA-like domain containing 4 (Nipal4)
  • 9530066K23Rik Protéine
  • ARCI6 Protéine
  • ICHTHYIN Protéine
  • ICHYN Protéine

Protein level used designations for NIPAL4

NIPA-like protein 4 , magnesium transporter NIPA4 , non-imprinted in Prader-Willi/Angelman syndrome region protein 4 , ichthyin , non-imprinted in Prader-Willi/Angelman syndrome region protein 4 homolog

GENE ID SPECIES
348938 Homo sapiens
214112 Mus musculus
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