NPHP1 Rabbit pAb (APR26741N)

• Background:

  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.

• Synonyms:

  NPHP1; JBTS4; NPH1; SLSN1

• Gene ID:

  4867

• UniProt:

  O15259

• Cellular Locus:

  Cell junction, Cell projection, Cytoplasm, adherens junction, cilium, cilium axoneme, cytoskeleton, tight junction

• Dilution:

  WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:200

• Form:

  Liquid

• Buffer:

  Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

• Molecular Weight:

  Calculated MW: 69kDa/77kDa/83kDa Observed MW: 83KDa

• Storage Conditions:

  Store at 4°C short term. For long-term storage, aliquot and store at -20°C or below. Stable for 12 months at -20°C. Avoid repeated freeze-thaw cycles.

• Overview:

  We constantly strive to ensure we provide our customers with the best antibodies. As a result of this work we offer this antibody in purified format. We are in the process of updating our datasheets. If you have any questions regarding this update, please feel free to contact our technical support team. This product is a high quality NPHP1 Rabbit pAb (APR26741N) .

• Gene ID URL:

  https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=4867

• Uniprot URL:

  https://www.uniprot.org/uniprot/O15259

• AA Sequence:

  PDLGILFELGISYIRNSTGERGELSCGWVFLKLFDASGVPIPAKTYELFLNGGTPYEKGIEVDPSISRRAHGSVFYQIMTMRRQPQLLVKLRSLNRRSRNVLSLLPETLIGNMCSIHLLIFYRQILGDVLLKDRMSLQSTDLISHPMLATFPMLLEQPDVMDALRSSWAGKESTLKRSEKRDKEFLKSTFLLVYHDCVLPLLHSTRLPPFRWAEEETETARWKVITDFLKQNQENQGALQALLSPDGVHEPFDLSEQTYDFLGEMRKNAV