AHI1, encoding the Jouberin protein, is an alternatively spliced signaling molecule that contains seven Trp-Asp (WD) repeats, an SH3 domain, and numerous SH3-binding sites. The gene is expressed strongly in embryonic hindbrain and forebrain, and AHI1 may be required for both cerebellar and cortical development in humans. Defects in AHI1 are the cause of Joubert syndrome 3, an autosomal recessive brain congenital malformation. The exact function of the AHI1 gene is not yet known.
Applications:
Suitable for use in Western Blot and ELISA. Other applications not tested.
Recommended Dilution:
Western Blot: 1-3ug/ml
ELISA: 1:128,000
Optimal dilutions to be determined by the researcher.
Storage and Stability:
May be stored at 4 degrees C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degrees 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.