PITX3 Polyclonal Antibody, 100ul Peripheral Blood Separation Tube at least one of which

at least one of which encodes a preproprotein that is proteolytically processed to generate two chains that comprise the heterodimeric active enzyme

dilated cardiomyopathy

The encoded protein catalyzes formation of protein cross-links between glutamine and lysine residues| often resulting in stabilization of protein assemblies

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

PITX3 Polyclonal Antibody, 100ul Peripheral Blood Separation Tube at least one of whichThis gene encodes a member of the RIEG PITX homeobox family, which is in the bicoid class of homeodomain proteins. Members of this family act as transcription factors. This protein is involved in lens formation during eye development. Mutations of this gene have been associated with anterior segment mesenchymal dysgenesis and congenital cataracts.