CECR1 Human
Description
CECR1 is expressed with an 8 amino acid His tag at C-Terminus and purified by proprietary chromatographic techniques.
Product Specs
Product Science Overview
Cat Eye Syndrome Chromosome Region Candidate 1 (CECR1), also known as Adenosine Deaminase 2 (ADA2), is a gene located on chromosome 22q11.1. This gene is implicated in Cat Eye Syndrome (CES), a rare genetic disorder characterized by a variety of congenital anomalies. The recombinant form of CECR1 is produced through recombinant DNA technology, which allows for the expression of the human gene in a host organism, typically bacteria or yeast, to produce the protein in large quantities.
Cat Eye Syndrome is named for the characteristic eye appearance in some affected individuals, which resembles a cat’s eye due to a coloboma of the iris. The syndrome is caused by the presence of an extra chromosome fragment, specifically a small supernumerary marker chromosome derived from chromosome 22 . This extra genetic material leads to a wide range of symptoms, including ocular, cardiac, renal, and anal anomalies .
The CECR1 gene encodes the enzyme adenosine deaminase 2 (ADA2), which is involved in the degradation of extracellular adenosine. Adenosine acts as a signaling molecule in various cellular processes, including inflammation and immune response . Mutations or alterations in the CECR1 gene can disrupt these processes, contributing to the symptoms observed in Cat Eye Syndrome.
The recombinant form of CECR1 is produced using recombinant DNA technology. The process involves the following steps:
- Gene Cloning: The CECR1 gene is isolated and inserted into a plasmid vector.
- Transformation: The plasmid vector is introduced into a host organism, such as Escherichia coli or Saccharomyces cerevisiae.
- Expression: The host organism is cultured under conditions that promote the expression of the CECR1 gene, leading to the production of the ADA2 protein.
- Purification: The recombinant ADA2 protein is purified from the host organism using techniques such as affinity chromatography .
The ADA2 enzyme catalyzes the deamination of adenosine to inosine, a crucial step in purine metabolism. This reaction involves the removal of an amino group from adenosine, resulting in the formation of inosine and ammonia. The activity of ADA2 is essential for maintaining the balance of adenosine levels in the extracellular space, which in turn regulates various physiological processes .
