T3HPD Rabbit Polyclonal Antibody, 20ul Drug Development and Evaluation Defects in this gene may

Defects in this gene may be associated with severe combined immunodeficiency (SCID)

which is a transmembrane receptor for growth hormone

and are also implicated in neurogenesis and somitogenesis

Mutations in CYP26B1 are associated with radiohumeral fusions and other skeletal and craniofacial anomalies

T3HPD Rabbit Polyclonal Antibody, 20ul Drug Development and Evaluation Defects in this gene mayThe protein encoded by this gene is a dehydratase that converts trans 3 hydroxy L proline to delta(1) pyrroline 2 carboxylate. This enzyme may function to degrade dietary proteins that contain trans 3 hydroxy L proline as well as other proteins such as collagen IV. The encoded protein can be converted to an epimerase by changing a threonine to a cysteine at a catalytic site.