Phospho-CaSR (T888) Polyclonal Antibody, 50ul Custom Peptide Synthesis Mutations in several of the

Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome

This gene encodes a component of the mediator complex (also known as TRAP

including neonatal disease and adult-onset neurodegenerative disorders

ADAMTS19 encodes a member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) protein family

Phospho-CaSR (T888) Polyclonal Antibody, 50ul Custom Peptide Synthesis Mutations in several of theThe protein encoded by CASR (calcium sensing receptor) is a G protein coupled receptor that is expressed in the parathyroid hormone (PTH) producing chief cells of the parathyroid gland, and the cells lining the kidney tubule. It senses small changes in circulating calcium concentration and couples this information to intracellular signaling pathways that modify PTH secretion or renal cation handling, thus this protein plays an essential role in