NBAS Polyclonal Antibody, 100ul Human Genome Knockout Libraries hypercalciuria and nephrocalcinosis associated with

hypercalciuria and nephrocalcinosis associated with severe ocular abnormalities such as bilateral chorioretinal scars

The encoded protein is a multi-pass membrane protein that is expressed selectively in cerebellar Purkinje cells

Alternative splicing occurs at DGKZ and multiple transcript variants encoding distinct isoforms have been identified

This complex is necessary for proper chromosome segregation and completion of cytokinesis

Functional studies with recombinant protein demonstrate it does bind calcium and undergoes a conformational change when it does so

NBAS Polyclonal Antibody, 100ul Human Genome Knockout Libraries hypercalciuria and nephrocalcinosis associated withThis gene encodes a protein with two leucine zipper domains, a ribosomal protein S14 signature domain and a Sec39 like domain. The protein is thought to be involved in Golgi to ER transport. Mutations in this gene are associated with short stature, optic nerve atrophy, and Pelger Huet anomaly.