Human CHD7 is a chromodomain helicase DNA-binding protein and mutations in the CHD7 gene are a major cause of CHARGE syndrome. CHARGE syndrome is a well characterized multiple-malformation syndrome with distinctive diagnostic critera. Anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation.
Applications:
Suitable for use in ELISA. Other applications not tested.
Recommended Dilution:
ELISA: 1:64,000
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.