Nephronophthisis 4 Protéines (NPHP4)

NPHP4 encodes a protein involved in renal tubular development and function. De plus, nous expédions NPHP4 Anticorps (28) et et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
NPHP4 261734 O75161
Rat NPHP4 NPHP4 313749  
NPHP4 260305 P59240
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Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
Détails
Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
Détails
Wheat germ Humain GST tag 10 μg Connectez-vous pour afficher 11 to 12 Days
$414.29
Détails

NPHP4 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human ,
,
Mouse (Murine)

Plus protéines pour Nephronophthisis 4 (NPHP4) partenaires d'interaction

Cow (Bovine) Nephronophthisis 4 (NPHP4) interaction partners

  1. retinitis pigmentosa GTPase regulator interacting protein 1 (Montrer RPGRIP1 Protéines) and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina

Human Nephronophthisis 4 (NPHP4) interaction partners

  1. Inherited 3 deleterious mutations in two nephronophthisis genes, NPHP3 (Montrer NPHP3 Protéines) and NPHP4 cause unusually severe form of infantile nephronophthisis.

  2. homozygous NPHP4 truncating mutation that expands the phenotypic spectrum of NPHP4-related nephronophthisis to also include cerebello-oculo-renal syndrome and abnormal spermatogenesis causing male infertility

  3. The ciliary protein nephrocystin-4 translocates the canonical Wnt (Montrer WNT2 Protéines) regulator Jade-1 (Montrer PHF17 Protéines) to the nucleus to negatively regulate beta-catenin (Montrer CTNNB1 Protéines) signaling.

  4. NPHP4 mutations are associated with cardiac laterality defects and heterotaxy.

  5. Identify NPHP4 as a negative regulator of the Hippo pathway and suggest that NPHP4 regulates cell proliferation through its effects on Hippo signaling.

  6. These results indicate the novel and independent association between single-point SNP rs1287637 in NPHP4 gene and renal function in non-diabetic Japanese population.

  7. Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken syndrome.There is evolutionary conservation of the NPHP4 gene, with an ortholog in C. elegans.

  8. Interacts with NPHP1 (Montrer NPHP1 Protéines) protein, suggesting that these two proteins participate in a common signaling pathway; identification of five different mutations in unrelated individuals with nephronophthisis

  9. part of multifunctional complex localized in actin- and microtubule-based structures

  10. two recessive mutations in NPHP4 are a rare cause of nephronophthisis, and single heterozygous NPHP4 sequence variants are three times more prevalent than two recessive mutations

Mouse (Murine) Nephronophthisis 4 (NPHP4) interaction partners

  1. A mutation in NPHP4 in mice does not result in renal defects which are observed in human patients with mutations in NPHP4, but they do develop severe photoreceptor degeneration and extinguished rod and cone ERG (Montrer ERG Protéines) responses.

  2. retinitis pigmentosa GTPase regulator interacting protein 1 (Montrer RPGRIP1 Protéines) and nephrocystin-4 interact strongly in vitro and in vivo, and that they colocalize in the retina

  3. Recessive mutations in the NPHP4 gene, encoding the protein nephroretinin, in humans cause nephronophthisis type 4 and Senior-Loken. There is evolutionary conservation of the NPHP4 gene, with an orhtolog in C. elegans.

Profil protéine NPHP4

Profil protéine

This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa.

Gene names and symbols associated with Nephronophthisis 4 Protéines (NPHP4)

  • nephrocystin 4 (NPHP4)
  • nephrocystin-4 (LOC100184720)
  • nephrocystin 4 (Nphp4)
  • nephronophthisis 4 (juvenile) homolog (human) (Nphp4)
  • 4930564O18Rik Protéine
  • nmf192 Protéine
  • NPHP4 Protéine
  • POC10 Protéine
  • SLSN4 Protéine

Protein level used designations for Nephronophthisis 4 Protéines (NPHP4)

nephronophthisis 4 , nephrocystin-4 , nephrocystin-4-like , POC10 centriolar protein homolog , nephroretinin , nephronophthisis 4 (juvenile) homolog

GENE ID SPECIES
419377 Gallus gallus
457887 Pan troglodytes
489625 Canis lupus familiaris
519551 Bos taurus
720707 Macaca mulatta
100059842 Equus caballus
100184720 Ciona intestinalis
100406722 Callithrix jacchus
100459715 Pongo abelii
100483045 Ailuropoda melanoleuca
261734 Homo sapiens
313749 Rattus norvegicus
260305 Mus musculus
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