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Cat. Number:

bs-19204R-Gold

Quantity size:

100ul   35nm

Concentration:

0.4mg/ml  Buffer = 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

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 different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Also known as:

JBTS4; Juvenile nephronophthisis 1 protein; Nephrocystin 1; nephronophthisis 1 (juvenile); NPH1; NPHP1; SLSN1.

Specificity:

Storage:

0.02M TBS(pH8.2) with 1% BSA, 0.03% Proclin300. Store at 2-8 oC for 3-6 months. Avoid repeated freeze/thaw cycles.

Application:

Not yet tested in other applications.
Optimal working dilutions must be determined by the end user.

Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.