CD56 Polyclonal Antibody, 50ul[BT-AP01695] Peptide Synthesis Mutations in CEP57 cause mosaic

Mutations in CEP57 cause mosaic variegated aneuploidy syndrome

and to a lesser degree

and may also function in the activation and polarization of T cells

This enzyme plays a central role in the generation of purine nucleotides through the purine salvage pathway

In addition to its phospholipase C Catalytic activity

CD56 Polyclonal Antibody, 50ul[BT-AP01695] Peptide Synthesis Mutations in CEP57 cause mosaicCEP290 encodes a protein (centrosomal protein 290) with 13 putative coiled coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N glycosylation, tyrosine sulfation, phosphorylation, N myristoylation, and amidation. Mutations in CEP290 have been associated with Joubert