GATA-3 Monoclonal Antibody, 50ul[BT-MCA0608] Nucleic Acid Amplification Mutations in this gene result

Mutations in this gene result in Bietti crystalline corneoretinal dystrophy

Genomic sequences representing several pseudogenes have been described and two transcript variants encoding different isoforms have been identified for this gene

PPP1R8 (protein phosphatase 1 regulatory subunit 8)

Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation

GATA-3 Monoclonal Antibody, 50ul[BT-MCA0608] Nucleic Acid Amplification Mutations in this gene resultThis gene encodes a protein which belongs to the GATA family of transcription factors. The protein contains two GATA type zinc fingers and is an important regulator of T cell development and plays an important role in endothelial cell biology. Defects in this gene are the cause of hypoparathyroidism with sensorineural deafness and renal dysplasia.