RUNX1 Monoclonal Antibody, 100ul[BT-MCA1114] ssDNA Synthesis RAB3 GTPase activating non-catalytic protein

RAB3 GTPase activating non-catalytic protein subunit 2 forms the Rab3 GTPase-activating complex with RAB3GAP1

Mutations in this gene cause Joubert syndrome

and sporadic cases of congenital cataracts and ocular anterior segment anomalies

Variations in this gene may increase susceptibilty to systemic lupus erythematosus (SLE)

The encoded protein is targeted to the apical membrane of epithelial cells where it forms clusters and is important in establishing and maintaining polarity necessary for protein trafficking involving vesicle fusion and exocytosis

RUNX1 Monoclonal Antibody, 100ul[BT-MCA1114] ssDNA Synthesis RAB3 GTPase activating non-catalytic proteinCore binding factor (CBF) is a heterodimeric transcription factor that binds to the core element of many enhancers and promoters. The protein encoded by this gene represents the alpha subunit of CBF and is thought to be involved in the development of normal hematopoiesis. Chromosomal translocations involving this gene are well documented and have been associated with several types of leukemia. Three transcript variants encoding different isoforms have