GATA-3 Monoclonal Antibody, 50ul[BT-MCA0608] Nucleic Acid Amplification PPP1R8 (protein phosphatase 1 regulatory

PPP1R8 (protein phosphatase 1 regulatory subunit 8)

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

Mutations in this gene result in Bietti crystalline corneoretinal dystrophy

DMGDH encodes an enzyme involved in the catabolism of choline

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 PPP1R8 (protein phosphatase 1 regulatoryThis 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.