NIPA-Like Domain Containing 4 Proteine (NIPAL4)

NIPAL4 likely encodes a membrane receptor. Zusätzlich bieten wir Ihnen NIPA-Like Domain Containing 4 Antikörper (12) und viele weitere Produktgruppen zu diesem Protein an.

alle Proteine anzeigen Gen GeneID UniProt
NIPAL4 348938 Q0D2K0
NIPAL4 214112 Q8BZF2
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Katalog Nr. Origin Quelle Konjugat Bilder Menge Anbieter Lieferzeit Preis Details
Insektenzellen Maus rho-1D4 tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 0.25 mg Anmelden zum Anzeigen 46 bis 51 Tage
4.032,65 €
Details
Insektenzellen Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Anmelden zum Anzeigen 46 Days
5.173,33 €
Details

NIPAL4 Proteine nach Spezies und Herkunft

Origin Exprimiert in Konjugat
Human
,
Mouse (Murine)

Weitere Proteine zu NIPA-Like Domain Containing 4 (NIPAL4) Interaktionspartnern

Human NIPA-Like Domain Containing 4 (NIPAL4) Interaktionspartner

  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 (zeige LBR Proteine).

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

  4. Autosomal recessive congenital ichthyosis (zeige LBR Proteine) patients with NIPAL4 mutations and abnormal ichthyin expression showed increased 12R-LOX (zeige ALOX12B Proteine) and eLOX-3 (zeige ALOXE3 Proteine) 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 (zeige LBR Proteine).

  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 (zeige LBR Proteine) (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 (zeige LBR Proteine) by mildly affecting the expression of retinoid- regulated genes in epidermis.

NIPA-Like Domain Containing 4 (NIPAL4) Protein Überblick

Protein Überblick

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

Genbezeichner und Symbole assoziert mit NIPAL4

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

Bezeichner auf Proteinebene für 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 SPEZIES
348938 Homo sapiens
214112 Mus musculus
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