CGT Polyclonal Antibody, 50ul[BT-AP14928] Modification Enzymes resides in the critical region

resides in the critical region for VCFS/DGS on 22q11

such as RALGDS

may act as an inhibitory receptor upon ligand induced tyrosine phosphorylation by recruiting cytoplasmic phosphatase(s) via their SH2 domain(s) that block signal transduction through dephosphorylation of signaling molecules

is a frequent finding in alveolar rhabdomyosarcoma

This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone

CGT Polyclonal Antibody, 50ul[BT-AP14928] Modification Enzymes resides in the critical regionThe protein encoded by this gene belongs to the UDP glycosyltransferase family. It catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central and peripheral nervous systems. Alternatively spliced transcript variants have been found for this gene.