Nephronophthisis 1 (Juvenile) (NPHP1) ELISA Kits

NPHP1 encodes a protein with src homology domain 3 (SH3) patterns. Zusätzlich bieten wir Ihnen NPHP1 Antikörper (33) und NPHP1 Proteine (8) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Human NPHP1 NPHP1 4867 O15259
Anti-Ratte NPHP1 NPHP1 296136  
Anti-Maus NPHP1 NPHP1 53885 Q9QY53
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Weitere ELISA Kits für NPHP1 Interaktionspartner

Human Nephronophthisis 1 (Juvenile) (NPHP1) Interaktionspartner

  1. Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons.

  2. Ocular motor apraxia (OMA) may present with extraocular manifestations (nephronophthisis and cerebellar vermis hypoplasia) and that OMA can be associated with NPHP1 mutations.

  3. dynamic genomic rearrangements occurred historically within the NPHP1 locus and generated SV haplotypes observed in the human population today, which may confer differential susceptibility to genomic instability and the NPHP1 deletion

  4. We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort.

  5. A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families in Iranian children with nephronophthisis.

  6. These results suggest that NPHP1 mutations are probably rare primary causes of Bardet-Biedl syndrome that contribute to the mutational burden of the disorder.

  7. NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease.

  8. Congenital ocular motor apraxia and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1.

  9. Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian patients with clinical pictures of tubulo-interstitiel kidney disorder and chronic renal failure.

  10. Report NPHP1 mutations in nephronophthisis and associated ciliopathies and Joubert syndrome-related disorders.

Mouse (Murine) Nephronophthisis 1 (Juvenile) (NPHP1) Interaktionspartner

  1. PC-1 (zeige PCSK1 ELISA Kits) polyproline motif interacts with the SH3 domain (zeige ITSN1 ELISA Kits) of NPHP1.

  2. casein kinase 2 induces PACS-1 (zeige PACS1 ELISA Kits) binding of nephrocystin and targeting to cilia

  3. homozygous Nphp1 mutant mice were viable without renal manifestations of nephronophthisis, but males were infertile with oligoteratozoospermia

  4. Nphp1 affect the sorting mechanism and transportation efficiency of the traffic machinery between inner and outer segments of photoreceptors.

  5. Nphp1 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.

NPHP1 Antigen-Profil

Beschreibung des Gens

This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene.

Genbezeichner und Symbole assoziert mit NPHP1

  • nephronophthisis 1 (juvenile) (NPHP1) Antikörper
  • nephronophthisis 1 (juvenile) (LOC100221020) Antikörper
  • nephronophthisis 1 (juvenile) (LOC100227206) Antikörper
  • nephronophthisis 1 (nphp1) Antikörper
  • nephronophthisis 1 (juvenile) (Nphp1) Antikörper
  • nephronophthisis 1 (juvenile) (nphp1) Antikörper
  • nephronophthisis 1 (juvenile) homolog (human) (Nphp1) Antikörper
  • im:7162391 Antikörper
  • JBTS4 Antikörper
  • nephrocystin-1 Antikörper
  • NPH1 Antikörper
  • NPHP1 Antikörper
  • SLSN1 Antikörper
  • wu:fi59g07 Antikörper
  • zgc:152930 Antikörper

Bezeichner auf Proteinebene für NPHP1

nephronophthisis 1 (juvenile) , nephrocystin , nephrocystin-1-like , nephrocystin-1 , juvenile nephronophthisis 1 protein , nephrocystin 1 , nephronophthisis 1 (juvenile) homolog , nephrocystin1

GENE ID SPEZIES
459483 Pan troglodytes
696218 Macaca mulatta
100033209 Monodelphis domestica
100051808 Equus caballus
100221020 Taeniopygia guttata
100227206 Taeniopygia guttata
100437705 Pongo abelii
100523176 Sus scrofa
100595925 Nomascus leucogenys
100002391 Danio rerio
4867 Homo sapiens
296136 Rattus norvegicus
432293 Xenopus laevis
421223 Gallus gallus
403780 Canis lupus familiaris
505421 Bos taurus
53885 Mus musculus
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