Basic information of ADA :
| Official Symbol of Gene | ADA |
| Species | Homo sapiens |
| Entrez Gene ID | 100 |
| Official Full Name | adenosine deaminase |
| Also known as | ADA1 |
| Gene Type | protein coding |
| dbXrefs | Ensembl:ENSG00000196839 MIM:608958; AllianceGenome:HGNC:186 |
| Map Location | 20q13.12 |
| Variation Type | SNP |
| refSNP ID | rs244072 |
Sample information of multiple sclerosis:
| Detected Sample | peripheral blood/CSF |
| Sample Detail | N/A |
| Detected Method | PCR |
| Disease | MS |
| Disease subtype | NA |
| Population | NA |
| Sample Size | 561MS |
Literature information of multiple sclerosis :
| Pubmed ID | 33007809 |
| Year | 2020 |
| Title | A Single Nucleotide ADA Genetic V ariant Is Associated to Central Inflammation and Clinical Presentation in MS: Implications for Cladribine Treatment |
Results of multiple sclerosis :
| Risk Type | Disease risk |
| Main Result | Positive |
| Result | In MS patients, ADA SNP rs244072 is associated with CSF inflammation and disability. |
| Mechanism/Pathway | The immune response homeostasis is crucially regulated by the activity of the enzyme adenosine deaminase (ADA), as evidenced in patients with genetic ADA deficiency and in those treated with cladribine tablets. |
