Adenosine deaminase 2
The ADA2 gene encodes an important regulatory enzyme that deaminates adenosine. Mutations cause autosomal recessive ADA2 deficiency and Sneddon syndrome.
Genetests:
Related Diseases:
References:
1. |
Riazi MA et al. (2000) The human homolog of insect-derived growth factor, CECR1, is a candidate gene for features of cat eye syndrome.
|
2. |
Mascarenhas R et. al. () Familial Sneddon's syndrome.
|
3. |
Zavialov AV et al. (2005) Human ADA2 belongs to a new family of growth factors with adenosine deaminase activity.
|
4. |
Zavialov AV et al. (2010) Structural basis for the growth factor activity of human adenosine deaminase ADA2.
|
5. |
Zhou Q et. al. (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2.
|
6. |
Navon Elkan P et. al. (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
|
7. |
Bras J et. al. (2014) Mutant ADA2 in vasculopathies.
|
8. |
Van Montfrans JM et. al. (2016) Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
|
9. |
None (2018) Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.
|
Update: Aug. 14, 2020