|Immunohistochemistry (Paraffin) (IHC (P))||1:50-1:100|
|Tested Species reactivity||Human|
|Host / Isotype||Rabbit / IgG|
|Immunogen||A synthetic peptide derived from the internal region of human NPHP4 (CRQGKGPQDVSRESD)|
|Purification||Antigen affinity chromatography|
|Storage buffer||Dulbecco's PBS, pH 7.4, with 150mM NaCl, 50% glycerol|
|Contains||0.02% sodium azide|
This gene encodes a protein involved in renal tubular development and function. This protein interacts with nephrocystin, and belongs to a multifunctional complex that is localized to actin- and microtubule-based structures. Mutations in this gene are associated with nephronophthisis type 4, a renal disease, and with Senior-Loken syndrome type 4, a combination of nephronophthisis and retinitis pigmentosa. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014].
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: KIAA0673; Nephrocystin-4; Nephroretinin; POC10 centriolar protein homolog
Gene Aliases: KIAA0673; NPHP4; POC10; SLSN4
UniProt ID: (Human) O75161
Entrez Gene ID: (Human) 261734
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