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

Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrop

This gene encodes a member of the WAP-type four-disulfide core (WFDC) domain family

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

ZFHX3 encodes a transcription factor with multiple homeodomains and zinc finger motifs

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