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Nephronophthisis 3 (Adolescent) (NPHP3) ELISA Kits

NPHP3 encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. Additionally we are shipping NPHP3 Antibodies (21) and NPHP3 Proteins (3) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human NPHP3 NPHP3 27031 Q7Z494
Anti-Mouse NPHP3 NPHP3 74025 Q7TNH6
Anti-Rat NPHP3 NPHP3 363126  
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More ELISA Kits for NPHP3 Interaction Partners

Human Nephronophthisis 3 (Adolescent) (NPHP3) interaction partners

  1. a rare neonatal ciliopathy presentation of NPHP3 mutations leading to severe multiorgan failure in two siblings.

  2. The known phenotype of NPHP3 mutation caused renal-hepatic-pancreatic dysplasia has been extended to include skeletal and CNS anomalies.

  3. ANKS6 as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8 (show NEK9 ELISA Kits), INVS (show INVS ELISA Kits) and NPHP3.

  4. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis.

  5. In six families with nephronophthisis, there were two mutations in either NPHP1 (show NPHP1 ELISA Kits), NPHP3, or NPHP4 (show NPHP4 ELISA Kits), suggesting oligogenicity.

  6. NPHP3 mutations can cause a broad clinical spectrum of early embryonic patterning defects.

  7. screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 (show INVS ELISA Kits) and NPHP3 mutations and determined genotype-phenotype correlations

  8. The presence of congenital malformations in the case series confirms the crucial role of NPHP3 in early embryonic development of the kidneys and urinary tract.

Mouse (Murine) Nephronophthisis 3 (Adolescent) (NPHP3) interaction partners

  1. Inv (show INVS ELISA Kits) acts as a molecular anchor for Nphp3 and Nek8 (show NEK8 ELISA Kits) in the proximal segment of primary cilia.

  2. a homozygous missense mutation in Nphp3 is probably responsible for the polycystic kidney disease (pcy) mouse phenotype

  3. The pcy mutation generates a hypomorphic Nphp3 allele that is responsible for the cystic kidney disease phenotype, whereas complete loss of Nphp3 function results in situs inversus, congenital heart defects, and embryonic lethality in mice.

NPHP3 Antigen Profile

Antigen Summary

This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene.

Gene names and symbols associated with NPHP3

  • nephronophthisis 3 (nphp3) antibody
  • nephronophthisis 3 (adolescent) (NPHP3) antibody
  • nephronophthisis 3 (adolescent) (Nphp3) antibody
  • 3632410F03Rik antibody
  • AI550417 antibody
  • C230078J01 antibody
  • D330020E01Rik antibody
  • MKS7 antibody
  • NPH3 antibody
  • pcy antibody
  • RGD1563856 antibody
  • RHPD antibody
  • si:dkey-56l10.1 antibody

Protein level used designations for NPHP3

nephrocystin-3 , nephronophthisis 3 (adolescent) , Meckel syndrome, type 7

GENE ID SPECIES
562601 Danio rerio
27031 Homo sapiens
74025 Mus musculus
363126 Rattus norvegicus
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