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Browse our NPHP3 Proteins (NPHP3)

Full name:
Nephronophthisis 3 (Adolescent) Proteins (NPHP3)
On www.antibodies-online.com are 3 Nephronophthisis 3 (Adolescent) (NPHP3) Proteins from 2 different suppliers available. Additionally we are shipping NPHP3 Antibodies (22) and many more products for this protein. A total of 26 NPHP3 products are currently listed.
Synonyms:
3632410F03Rik, AI550417, C230078J01, D330020E01Rik, MKS7, NPH3, pcy, RGD1563856, RHPD, si:dkey-56l10.1
list all proteins Gene Name GeneID UniProt
NPHP3 27031 Q7Z494
NPHP3 74025 Q7TNH6
Rat NPHP3 NPHP3 363126  

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NPHP3 Proteins (NPHP3) by Origin

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Human Nephronophthisis 3 (Adolescent) (NPHP3) interaction partners

  1. NPHP3 mutations were prevalent in Chinese infantile nephronophthisis patients. All patients with NPHP3 mutations showed renal-hepatic phenotype.

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

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

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

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

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

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

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

  9. 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 Proteins) acts as a molecular anchor for Nphp3 and Nek8 (show NEK8 Proteins) 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 Protein Profile

Protein 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.

Alternative names and synonyms associated with NPHP3

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

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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