NPHP1 rabbit pAb
ENT-A9183
Description
| REF | ENT-A9183 |
|---|---|
| Category | Antibody Polyclonal |
| Description | NPHP1 rabbit pAb |
| Source | Rabbit |
| Applications | WB;ELISA |
| Reactivity | Human;Mouse |
| Reactivity | Human;Mouse |
| Dilution | WB 1:500-2000 ELISA 1:5000-20000 |
| Immunogen | Synthesized peptide derived from human protein . at AA range: 510-590 |
| Storage Stability | -20°C/1 year |
| Clonality | Polyclonal |
| Isotype | IgG |
| Concentration | 1 mg/ml |
| Observed Band KD | 80kD |
| Human Gene ID | 4867 |
| Human Swiss Prot Nº | O15259 |
| Subcellular Location | Cell junction . Cell junction, adherens junction . Cell projection, cilium . Cytoplasm, cytoskeleton, cilium axoneme . Cell junction, tight junction. In the retinal photoreceptor cell layer, localizes at the connecting cilium (By similarity). Colocalizes with E-cadherin and BCAR1 at or near the cell-cell adherens junctions (By similarity). Localized to respiratory cilia axoneme (PubMed:16308564, PubMed:16885411). Localized to the transition zone of respiratory cilia (PubMed:16885411). Localized to the transition zone of photoreceptor-connecting cilia and renal monocilia (By similarity). In cultured renal cells, it localizes diffusely in the cytoplasm but, as cells approach confluence, it accumulates at basolateral tight junctions (By similarity). . |
Other Name:
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 diffe