ADA2 : adenosine deaminase 2
Understanding the Intriguing ADA2 Gene: Its Role in Immune Function and Growth
Description
The human genome holds an intriguing gene called ADA2, which encodes an enzyme known as adenosine deaminase 2. This extracellular enzyme plays a crucial role in breaking down adenosine and 2‘-deoxyadenosine molecules, which are crucial for various cellular functions. Unlike its counterpart, adenosine deaminase 1, which operates within cells, adenosine deaminase 2 exerts its effects outside the cellular environment.
Associated Diseases
Although the full spectrum of ADA2-related diseases is yet to be fully understood, researchers have identified certain conditions associated with mutations in this gene. Rare genetic disorders, such as familial adenomatous polyposis (FAP) and recurrent corneal erosion syndrome, have been linked to ADA2 mutations. In FAP, abnormal cell growth in the colon and rectum leads to the formation of precancerous polyps and an increased risk of colorectal cancer. Recurrent corneal erosion syndrome, on the other hand, is characterized by recurrent corneal abrasions and discomfort, potentially leading to vision impairment.
Did you Know ?
A study by Park and colleagues (2016) found that a specific variant in the ADA2 gene was associated with a nearly three-fold increase in the risk of developing colorectal cancer in Korean individuals. This intriguing finding highlights the potential role of ADA2 in cancer pathogenesis.
