DGCR6 Human

DiGeorge Syndrome Critical Region Gene 6 (DGCR6) is a protein-coding gene located on chromosome 22q11.2. This gene is associated with DiGeorge syndrome, a disorder caused by the deletion of a small segment of chromosome 22. The syndrome is also known as CATCH 22, which stands for Cardiac defects, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia, all of which are common features of the disorder .

DGCR6 shares homology with the Drosophila melanogaster gonadal protein, which is involved in gonadal and germ cell development, and with the gamma-1 subunit of human laminin, which plays a role in cell attachment and migration . The gene is thought to be involved in the migration of neural crest cells into the third and fourth pharyngeal pouches during embryonic development .

Microdeletions in the 22q11.2 region, where DGCR6 is located, are implicated in DiGeorge syndrome and other related disorders such as Velocardiofacial syndrome . These deletions can lead to a variety of developmental anomalies, including congenital heart defects, immune deficiencies, and facial dysmorphisms . Additionally, DGCR6 has been suggested as a candidate gene for involvement in schizophrenia .

Human recombinant DGCR6 is a form of the protein that is produced through recombinant DNA technology. This involves inserting the DGCR6 gene into a suitable expression system, such as bacteria or yeast, to produce the protein in large quantities. Recombinant proteins are valuable for research and therapeutic purposes, as they allow scientists to study the protein’s function and role in disease more effectively.

Research on DGCR6 and its recombinant form is ongoing, with studies focusing on its role in neural crest cell migration and its potential involvement in various diseases. Understanding the function of DGCR6 could lead to new insights into the mechanisms underlying DiGeorge syndrome and related disorders, as well as potential therapeutic targets for these conditions.