Anti-Eyes Absent Homolog 1 (EYA1, Eyes Absent 1, OTTHUMP00000195053, Melnick-Fraser Syndrome, Eyes a

This gene encodes a member of the eyes absent (EYA) family of proteins. The encoded protein may play a role in the developing kidney, branchial arches, eye, and ear. Mutations of this gene have been associated with branchiootorenal dysplasia syndrome, branchiootic syndrome, and sporadic cases of congenital cataracts and ocular anterior segment anomalies. A similar protein in mice can act as a transcriptional activator. Four transcript variants encoding three distinct isoforms have been identified for this gene. Applications: Suitable for use in ELISA and Western Blot. Other applications have not been tested. , Recommended Dilutions: Peptide ELISA: 1:16,000, Western Blot: 1-3ug/ml ~55kD band observed in lysates of cell lline HEK293 (calculated MW of 60.7kD according to NP_742056.1)., Optimal dilutions to be determined by the researcher. 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 12 months after receipt. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.