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.
| Pack Size | 100ul, 1ml, 20ul |
|---|---|
| Applications | ELISA, WB |
| Host Species | Rabbit |
| Ig Isotype | IgG |
| Antibody Type | Polyclonal Antibody |
| Organism Species | Human |
| Concentration | – |
| Product Synonyms | NPHP3 |
| Observed Mol Wt | 151kDa |
| Alternative Names | MKS7; NPH3; RHPD; RHPD1; SLSN3; CFAP31; NPHP3 |
| Immunogen (Antigen) | Recombinant protein |
| Format | Liquid |
| Buffer Formulation | 50% glycerol, PBS with 0.02% sodium azide, pH7.3 |
| Reactivity | Human, Mouse |
| Uniprot ID | 27031 |
| Gene ID | Q7Z494 |
| Purification | Antigen-specific affinity chromatography followed by Protein A affinity chromatography |
| Usage | For Research Use Only. Not for diagnostics or human use. |
| Shelf Life | 12 months at time of shipping |
| Shipping | Shipped in Dry Ice at -20 Degree Celsius |
| Storage | Store at -20 Degree Celsius. It is recommended to aliquot and store to avoid repeated freeze-thaw as it affects the stability of the antibody. |
| Research Areas | Cell Biology; Developmental Biology; Immunology |
| Disclaimer | The data indicated herein are as indicated and validated in our laboratory. These reagents are for research use only and not for in-vitro diagnostics or human use. |

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