RO52 Polyclonal Antibody, 100ul Culture Tubes Mutations in this gene have

Mutations in this gene have been associated with Kenny-Caffey syndrome (KCS) type 2 and the more severe osteocraniostenosis (OCS| also known as Gracile Bone Dysplasia)| both characterized by short stature| hypoparathyroidism| bone development abnormalities| and hypocalcemia

macrophages)

This gene encodes a member of the sulfatase family of proteins

The encoded preproprotein is proteolytically processed to generate light and heavy chains that comprise the alpha 4 subunit

Acts as a coactivator by participating in the initiation and elongation steps of androgen receptor (AR)-induced gene activation

RO52 Polyclonal Antibody, 100ul Culture Tubes Mutations in this gene haveThis gene encodes a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc binding domains, a RING, a B box type 1 and a B box type 2, and a coiled coil region. The encoded protein is part of the RoSSA ribonucleoprotein, which includes a single polypeptide and one of four small RNA molecules. The RoSSA particle localizes to both the cytoplasm and the nucleus. RoSSA interacts with autoantigens in patients with Sjogren syndrome