83-6054-39　NPHP1 (nephronophthisis 1 (juvenile), FLJ97602, JBTS4, NPH1, SLSN1) 50ul　249420

特徴

• 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.
• [provided by RefSeq
• Applications:Suitable for use in Western Blot.
• 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℃ for short-term only.
• Aliquot to avoid repeated freezing and thawing.
• Store at -20℃.
• Aliquots are stable for 12 months.
• For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.