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

together with splicing factor 3a and a 12S RNA unit

Transcript variants with alternative splicing in the 5' UTR have been found for this gene

The splicing factor 3b subunit 4 encoded by SF3B4 cross-links to a region in the pre-mRNA immediately upstream of the branchpoint sequence in pre-mRNA in the prespliceosomal complex A

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.