Recombinant Proteins

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DGCR6 Human

DiGeorge Syndrome Critical Region Gene 6 Human Recombinant

This product consists of the human DGCR6 protein, manufactured in a lab using E. coli bacteria. The protein is not modified with sugar molecules (non-glycosylated) and is made up of 243 amino acids (building blocks of protein), with the active part encompassing amino acids 1 to 220. A 23 amino acid tag (His-tag) is attached to the protein's beginning to aid in purification. The protein is purified using specialized techniques and is highly pure.
Shipped with Ice Packs
Cat. No.
BT30556
Source
E.coli.
Appearance
A clear and sterile solution.

DGCR6L Human

DiGeorge Syndrome Critical Region Gene 6-Like Human Recombinant

Recombinant human DGCR6L, expressed in E. coli, is a single, non-glycosylated polypeptide chain consisting of 243 amino acids (residues 1-220) with a molecular weight of 27.3 kDa. The protein includes a 23 amino acid His-tag at the N-terminus and is purified using proprietary chromatographic methods.
Shipped with Ice Packs
Cat. No.
BT30580
Source
Escherichia Coli.
Appearance
Clear, colorless solution, sterile-filtered.
Definition and Classification

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 .

Biological Properties

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 .

Biological Functions

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 .

Modes of Action

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 .

Regulatory Mechanisms

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 .

Applications

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 .

Role in the Life Cycle

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 .

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