Human/Mouse/Rat DGCR2 Antibody

Applications

Please Note: Optimal dilutions should be determined by each laboratory for each application. General Protocols are available in the Technical Information section on our website.

Preparation and Storage

Background: DGCR2

DiGeorge Syndrome Critical Region 2 (DGCR2), also known as IDD, DGS-C, LAN, and SEZ-12, is an adhesion receptor protein located on the long arm of chromosome 22 (1). The DGCR2 gene encodes an integral membrane protein, consisting of an extracellular domain, a single transmembrane region and a cytoplasmic tail (1). The mature extracellular domain (ECD) of DGCR2 contains both a C-type lectin domain and a cysteine-rich region similar to that of the low density lipoprotein receptor (LDLR) (1, 3). The mature ECD of human DGCR2 shares 93% and 92% amino acid sequence identity with mouse and rat, respectively. DGCR2 is expressed during neurodevelopment in human brain tissues (3). Deletion of the 22q11.2 region results in an extremely variable disorder called 22q11.2 deletion syndrome, with a phenotype ranging from very mild symptoms to severe intellectual disability, facial dysmorphism, heart defects, and urogenital abnormalities (4). Recent studies suggest that DGCR2 regulates critical steps of early cortico-genesis possibly through a Reelin-dependent mechanism. Deletion of DGCR2 has a pathogenic impact on cortical formation by reducing protein expression level, and it plays a critical role in vulnerability to schizophrenia (5). Furthermore, expression of DGCR2 together with USP18 gene may serve as a progonostic marker for muscle invasive bladder cancer survival in patients (5).

Product Datasheets

Related Research Areas

• Adhesion G Protein-Coupled Receptors