ZPR1 Rabbit Polyclonal Antibody, 50ul Virus Packaging 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

a bleeding disorder (review by Lopez et al

with the greatest expression in skeletal muscle

This alternate protein

ZPR1 Rabbit Polyclonal Antibody, 50ul Virus Packaging Mutations in this gene haveThe protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene.