Nephronophthisis 4 蛋白 (NPHP4)

NPHP4 encodes a protein involved in renal tubular development and function. 再加上,我们可以发NPHP4 抗体 (19)和数多这个蛋白质的别的产品。

列出全部蛋白 基因 基因ID UniProt
NPHP4 261734 O75161
大鼠 NPHP4 NPHP4 313749  
NPHP4 260305 P59240
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Insect Cells His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 70 Days
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NPHP4 蛋白 by Origin and Source

Origin 在表达 标记
Human ,
,
Mouse (Murine)

更多Nephronophthisis 4 (NPHP4)互动伙伴

Cow (Bovine) Nephronophthisis 4 (NPHP4) interaction partners

  1. retinitis pigmentosa GTPase regulator interacting protein 1 (显示 RPGRIP1 蛋白) 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 (显示 NPHP3 蛋白) 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 (显示 WNT2 蛋白) regulator Jade-1 (显示 PHF17 蛋白) to the nucleus to negatively regulate beta-catenin (显示 CTNNB1 蛋白) 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 (显示 NPHP1 蛋白) 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 (显示 ERG 蛋白) responses.

  2. retinitis pigmentosa GTPase regulator interacting protein 1 (显示 RPGRIP1 蛋白) 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.

蛋白简介NPHP4

蛋白简介

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 蛋白 (NPHP4)

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

Protein level used designations for Nephronophthisis 4 蛋白 (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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