Juvenile nephronophthsis, an autosomal recessive cystic kidney disease, is the primary cause for chronic renal failure in children.
The gene for nephronophthsis type 1 (NPHP1) has recently been identified.
Nephronophthisis together with Cas it may play a role in the control of epithelial cell polarity.
Seems to help to recruit protein tyrosine kinase 2 beta (PTK2B) to cell matrix adhesions, thereby initiating phosphorylation of PTK2B and PTK2B-dependent signaling .
NPHP1 expression has been studied in mouse and human systems.
Expression in the human adult is widespread but relatively weak.
In contrast, expression in adult mouse is strong and localized to the testis.
In situ hybridization to whole mouse embryo demonstrates widespread and consistently strong expression throughout all developmental stages.
4 isoforms exist, produced by alternative splicing.
Applications:Suitable for use in Western Blot and Immunoprecipitation.
Other applications not tested.
Recommended Dilution:Optimal dilutions to be determined by the researcher.
AA Sequence:MLARRQRDPLQALRRRNQELKQQVDSLLSESQLKEALEPNKRQHIYQRCIQLKQAIDENKNALQKLSKADESAPVANYNQRKEEEHTLLDKLTQQLQGLAVTISRENITEYASFLPFFFLF
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for at least 12 months.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：100ul
Host：rabbit
Source Antibody：human
Grade：Serum
Purity：Serum
Form：Supplied as a liquid.
Specificity：Recognizes human NPHP1. Species Crossreactivity: mouse.
Isotype：IgG
Calc Applications Abbrev：IP WB
Calc Crossreactivity：Hu Mo
Immunogen：Full length human NPHP1, aa1-121 (NP_997064.1).
