≡

Nephronophthisis 4 (NPHP4)

[Edit]

SLSN4; POC10; Nephroretinin; Nephrocystin-4; POC10 Centriolar Protein Homolog(Chlamydomonas)

Nephronophthisis 4 (NPHP4)
CCC F681
HGNC 19104
MGI 2384210
PubMed 21555462
RGD 1560172
UniProt O75161
Wiki NPHP4
Nephrocystin-4 is a protein which contains a proline-rich region. The encoded protein may function in renal tubular development and function. This protein interacts with nephrocystin. Mutations in this gene are associated with nephronophthisis type 4. Multiple alternative transcript variants have been described but their full-length nature has not been determined. NPHP4 gene encodes a 1,250-amino acid protein that shares 86% identity with the mouse ortholog.In an erratum, they indicated that an error in sequence analysis had led to the masking of a methionine codon located 176 amino acids upstream of the previously reported initiation codon. Correction of this error indicated that NPHP4 contains 1,426 amino acids.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 4 (NPHP4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 4 (NPHP4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 4 (NPHP4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 4 (NPHP4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 4 (NPHP4) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 4 (NPHP4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 4 (NPHP4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 4 (NPHP4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 4 (NPHP4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 4 (NPHP4) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Nephronophthisis 4 (NPHP4) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Nephronophthisis 4 (NPHP4) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Nephronophthisis 4 (NPHP4) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Nephronophthisis 4 (NPHP4) CLIA Kit Customized Service Offer
n/a ELISA Kit for Nephronophthisis 4 (NPHP4) ELISA Kit Customized Service Offer
  1. "The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin."Nat. Genet. 32:300-305(2002) [PubMed] [Europe PMC] [Abstract]
  2. ErratumNat. Genet. 32:459-459(2002)
  3. "A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution."Am. J. Hum. Genet. 71:1161-1167(2002) [PubMed] [Europe PMC] [Abstract]
  4. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro."DNA Res. 5:169-176(1998) [PubMed] [Europe PMC] [Abstract]
  7. "Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome."Nat. Genet. 39:882-888(2007) [PubMed] [Europe PMC] [Abstract]
  8. "Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways." Cell 145:513-528(2011) [PubMed] [Europe PMC] [Abstract]
  9. "Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma."Eur. J. Hum. Genet. 19:445-451(2011) [PubMed] [Europe PMC] [Abstract]
  10. "TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum." Nat. Genet. 43:189-196(2011) [PubMed] [Europe PMC] [Abstract]
  11. "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling." Cell 150:533-548(2012) [PubMed] [Europe PMC] [Abstract]
  12. "Mutational analysis of the NPHP4 gene in 250 patients with nephronophthisis."Hum. Mutat. 25:411-411(2005) [PubMed] [Europe PMC] [Abstract]