ALK Polyclonal Antibody, 50ul[BT-AP00372] In vitro Assessment also named as RNF201

also named as RNF201

The enzyme encoded by this gene is active on phenols

Mutations in this gene are the cause of the autosomal recessive metabolism disorder alkaptonuria

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

It along with PCBP-2 and hnRNPK corresponds to the major cellular poly(rC)-binding protein

ALK Polyclonal Antibody, 50ul[BT-AP00372] In vitro Assessment also named as RNF201ALK encodes a receptor tyrosine kinase, which belongs to the insulin receptor superfamily. ALK tyrosine kinase receptor comprises an extracellular domain, an hydrophobic stretch corresponding to a single pass transmembrane region, and an intracellular kinase domain. It plays an important role in the development of the brain and exerts its effects on specific neurons in the nervous system. This gene has been found to be rearranged, mutated, or