NPHP1 Rabbit pAb (APR26741N)

Product Specifications

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.

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) .

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.

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