Statements (69)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:DNA
|
| gptkbp:anatomy |
lymphocytes
|
| gptkbp:application |
gptkb:gene_therapy
|
| gptkbp:associated_with |
gptkb:immunotherapy
gptkb:guidelines gptkb:scientific_collaborations immune response metabolic disorders public health initiatives therapeutic interventions autoimmune diseases inflammation patient advocacy groups cancer research genetic counseling clinical research studies viral infections bacterial infections cellular signaling educational resources for patients CRISPR applications international research efforts genetic research funding pediatric immunology gene delivery systems biomarker research patient management strategies gene editing technologies transplantation outcomes autoimmune conditions lymphoproliferative disorders chronic granulomatous disease immune cell development gene therapy efficacy long-term outcomes in SCID patients B-cell function T-cell function adenosine signaling pathways |
| gptkbp:breeding_range |
20q13.11
20q13.11 region |
| gptkbp:clinical_trial |
important for immune system function
ongoing for SCID treatment |
| gptkbp:code |
adenosine deaminase
|
| gptkbp:discovered_by |
Dr. R. Michael Blaese
|
| gptkbp:discovery_year |
1970s
|
| gptkbp:diseases |
immunodeficiency disorders
|
| gptkbp:function |
catalyzes the deamination of adenosine
|
| gptkbp:gene_variants |
multiple known variants
|
| gptkbp:genetic_studies |
point mutation
|
| https://www.w3.org/2000/01/rdf-schema#label |
ADA gene
|
| gptkbp:initiated_by |
adenosine analogs
|
| gptkbp:involved_in |
adenosine metabolism
|
| gptkbp:is_expressed_in |
high in lymphoid tissues
|
| gptkbp:is_tested_for |
available for genetic testing
|
| gptkbp:located_in |
human chromosome 20
|
| gptkbp:nutritional_value |
homodimer
removes amino group from adenosine |
| gptkbp:orthologs |
ADA in other species
|
| gptkbp:pathway |
purine metabolism
|
| gptkbp:promoter |
gptkb:ADA
deaminase family |
| gptkbp:related_disorder |
gptkb:adenosine_deaminase_deficiency
|
| gptkbp:research_focus |
gene therapy for SCID
|
| gptkbp:seed_dispersal |
protein-coding gene
|
| gptkbp:targets |
for SCID treatment
|
| gptkbp:transcription_regulation |
regulated by various transcription factors
|
| gptkbp:weight |
approximately 40 k Da
|
| gptkbp:bfsParent |
gptkb:adenosine_deaminase_deficiency
|
| gptkbp:bfsLayer |
5
|