Recombinant Proteins
Product List
DGCR6 Human
DiGeorge Syndrome Critical Region Gene 6 Human Recombinant
DGCR6L Human
DiGeorge Syndrome Critical Region Gene 6-Like Human Recombinant
Introduction
DiGeorge Syndrome (DGS), also known as 22q11.2 deletion syndrome, is a genetic disorder caused by a deletion on chromosome 22 at the q11.2 region . This deletion affects multiple genes and leads to a wide range of clinical manifestations, including congenital heart defects, thymic hypoplasia, hypoparathyroidism, and distinctive facial features . DGS is classified under chromosomal microdeletion syndromes and is often grouped with other syndromes like velocardiofacial syndrome due to overlapping features .
Key Biological Properties: The DiGeorge Syndrome Critical Region (DGCR) encompasses approximately 30 to 40 genes, including TBX1, DGCR2, and DGCR8 . These genes play crucial roles in the development of the heart, thymus, and parathyroid glands.
Expression Patterns: DGCR genes are expressed during early embryonic development, particularly in tissues derived from the pharyngeal arches .
Tissue Distribution: The expression of DGCR genes is prominent in the thymus, heart, parathyroid glands, and neural crest cells .
Primary Biological Functions: The genes within the DGCR are essential for normal development and function of the immune system, cardiovascular system, and craniofacial structures .
Role in Immune Responses: The thymic hypoplasia associated with DGS leads to T-cell deficiencies, impacting the body’s ability to mount effective immune responses .
Pathogen Recognition: The impaired immune function in DGS patients results in increased susceptibility to infections and autoimmune disorders .
Mechanisms with Other Molecules and Cells: DGCR genes interact with various cell adhesion molecules and signaling pathways to regulate cellular development and differentiation .
Binding Partners: For instance, DGCR2 interacts with Neurexin1 (NRXN1) to influence dendritic spine development and synaptic plasticity .
Downstream Signaling Cascades: The TBX1 gene, a key component of the DGCR, is involved in retinoic acid signaling pathways that are crucial for the development of the pharyngeal arches .
Transcriptional Regulation: The expression of DGCR genes is tightly regulated during embryogenesis by various transcription factors, including TBX1 .
Post-Translational Modifications: Proteins encoded by DGCR genes undergo post-translational modifications that are essential for their stability and function .
Biomedical Research: DGCR genes are studied extensively to understand their roles in congenital disorders and neurodevelopmental diseases .
Diagnostic Tools: Genetic testing for 22q11.2 deletions is a critical diagnostic tool for identifying DGS and related syndromes .
Therapeutic Strategies: Potential therapeutic approaches include thymic tissue transplantation and gene therapy to correct immune deficiencies in DGS patients .
Development: DGCR genes are crucial during embryonic development for the formation of the heart, thymus, and parathyroid glands .
Aging and Disease: As individuals with DGS age, they may develop additional complications such as autoimmune diseases, psychiatric disorders, and increased susceptibility to infections .
