Statements (69)
Predicate | Object |
---|---|
gptkbp:instance_of |
gptkb:physicist
|
gptkbp:application |
gptkb:physicist
|
gptkbp:associated_with |
gptkb:healthcare_organization
gptkb:scientific_collaborations gptkb:municipality 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:body_style |
lymphocytes
|
gptkbp:clinical_trial |
important for immune system function
ongoing for SCID treatment |
gptkbp:code |
adenosine deaminase
|
gptkbp:discovered_by |
Dr. R. Michael Blaese
|
gptkbp:established |
adenosine analogs
|
gptkbp:function |
catalyzes the deamination of adenosine
|
gptkbp:genetic_diversity |
point mutation
multiple known variants |
gptkbp:habitat |
20q13.11 region
|
https://www.w3.org/2000/01/rdf-schema#label |
ADA gene
|
gptkbp:intelligence |
ADA in other species
|
gptkbp:is_a_route_for |
purine metabolism
|
gptkbp:is_involved_in |
adenosine metabolism
|
gptkbp:is_represented_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:promoter |
gptkb:ADA
regulated by various transcription factors deaminase family |
gptkbp:research_focus |
gene therapy for SCID
|
gptkbp:seed_dispersal |
protein-coding gene
20q13.11 |
gptkbp:social_responsibility |
immunodeficiency disorders
|
gptkbp:targets |
for SCID treatment
|
gptkbp:treatment |
gptkb:adenosine_deaminase_deficiency
|
gptkbp:weight |
approximately 40 k Da
|
gptkbp:year_created |
1970s
|
gptkbp:bfsParent |
gptkb:adenosine_deaminase_deficiency
|
gptkbp:bfsLayer |
4
|