ADA2 gene

adenosine deaminase 2

The ADA2 gene provides instructions for making an enzyme called adenosine deaminase 2. This enzyme breaks down molecules called adenosine and 2'-deoxyadenosine. Because this enzyme functions in the spaces between cells, it is described as extracellular. Another form of the enzyme, adenosine deaminase 1, breaks down the same molecules inside cells. This other version of the enzyme is produced from the ADA gene.

Researchers are still working to determine the functions of adenosine deaminase 2. Studies suggest that it acts as a growth factor, which means that it stimulates cell growth and division. In particular, the enzyme appears to be involved in the growth and development of certain immune system cells, including macrophages, which are a type of white blood cell that plays a critical role in inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). Some macrophages are pro-inflammatory, meaning they promote inflammation, while others are anti-inflammatory, meaning they reduce inflammation.

More than 60 mutations in the ADA2 gene have been found to cause adenosine deaminase 2 deficiency, a disorder characterized by abnormal inflammation of various organs and tissues, particularly the blood vessels (vasculitis). These mutations severely reduce or eliminate the function of adenosine deaminase 2. Researchers do not fully understand how a shortage (deficiency) of this enzyme's activity leads to vasculitis and immune system abnormalities. They speculate that the enzyme deficiency may disrupt the balance between pro-inflammatory and anti-inflammatory macrophages in various tissues, leading to a buildup of pro-inflammatory macrophages and abnormal inflammation.

Cytogenetic Location: 22q11.1, which is the long (q) arm of chromosome 22 at position 11.1

Molecular Location: base pairs 17,178,790 to 17,221,854 on chromosome 22 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 22q11.1, which is the long (q) arm of chromosome 22 at position 11.1
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