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ADA

This gene encodes an enzyme that catalyzes the hydrolysis of adenosine to inosine. Various mutations have been described for this gene and have been linked to human diseases. Deficiency in this enzyme causes a form of severe combined immunodeficiency disease (SCID), in which there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins, whereas elevated levels of this enzyme have been associated with congenital hemolytic anemia. [provided by RefSeq, Jul 2008]
Full Name
Adenosine Deaminase
Function
Catalyzes the hydrolytic deamination of adenosine and 2-deoxyadenosine. Plays an important role in purine metabolism and in adenosine homeostasis. Modulates signaling by extracellular adenosine, and so contributes indirectly to cellular signaling events. Acts as a positive regulator of T-cell coactivation, by binding DPP4. Its interaction with DPP4 regulates lymphocyte-epithelial cell adhesion. Enhances dendritic cell immunogenicity by affecting dendritic cell costimulatory molecule expression and cytokines and chemokines secretion (By similarity). Enhances CD4+ T-cell differentiation and proliferation. Acts as a positive modulator of adenosine receptors ADORA1 and ADORA2A, by enhancing their ligand affinity via conformational change. Stimulates plasminogen activation. Plays a role in male fertility. Plays a protective role in early postimplantation embryonic development (By similarity).
Biological Process
Adenosine catabolic process
Aging
AMP catabolic process
Cell adhesion
dAMP catabolic process
dATP catabolic process
Deoxyadenosine catabolic process
Embryonic digestive tract development
Germinal center B cell differentiation
Histamine secretion
Hypoxanthine salvage
Inosine biosynthetic process
Liver development
Lung alveolus development
Negative regulation of adenosine receptor signaling pathway
Negative regulation of circadian sleep/wake cycle, non-REM sleep
Negative regulation of inflammatory response
Negative regulation of leukocyte migration
Negative regulation of mature B cell apoptotic process
Negative regulation of mucus secretion
Negative regulation of penile erection
Negative regulation of thymocyte apoptotic process
Peyer's patch development
Placenta development
Positive regulation of alpha-beta T cell differentiation
Positive regulation of B cell proliferation
Positive regulation of calcium-mediated signaling
Positive regulation of germinal center formation
Positive regulation of heart rate
Positive regulation of smooth muscle contraction
Positive regulation of T cell differentiation in thymus
Positive regulation of T cell receptor signaling pathway
Purine-containing compound salvage
Purine nucleotide salvage
Purine ribonucleoside monophosphate biosynthetic process
Regulation of cell-cell adhesion mediated by integrin
Response to drug
Response to hydrogen peroxide
Response to hypoxia
Response to morphine
Response to vitamin E
T cell activation
Trophectodermal cell differentiation
Xanthine biosynthetic process
Cellular Location
Cytoplasm; Cell membrane; Lysosome; Cell junction; Cytoplasmic vesicle lumen. Colocalized with DPP4 at the cell surface.
Involvement in disease
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-negative due to adenosine deaminase deficiency (ADASCID): An autosomal recessive disorder accounting for about 50% of non-X-linked SCIDs. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. ADA deficiency has been diagnosed in chronically ill teenagers and adults (late or adult onset). Population and newborn screening programs have also identified several healthy individuals with normal immunity who have partial ADA deficiency.

Anti-ADA antibodies

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Target: ADA
Host: Mouse
Antibody Isotype: IgG1, κ
Specificity: Human
Clone: V2-179739
Application*: E, WB
Target: ADA
Host: Mouse
Antibody Isotype: IgG2b
Specificity: Human
Clone: V2-630611
Application*: FC, IHC-P, WB
For Research Use Only. Not For Clinical Use.
(P): Predicted
* Abbreviations
IFImmunofluorescence
IHImmunohistochemistry
IPImmunoprecipitation
WBWestern Blot
EELISA
MMicroarray
CIChromatin Immunoprecipitation
FFlow Cytometry
FNFunction Assay
IDImmunodiffusion
RRadioimmunoassay
TCTissue Culture
GSGel Supershift
NNeutralization
BBlocking
AActivation
IInhibition
DDepletion
ESELISpot
DBDot Blot
MCMass Cytometry/CyTOF
CTCytotoxicity
SStimulation
AGAgonist
APApoptosis
IMImmunomicroscopy
BABioassay
CSCostimulation
EMElectron Microscopy
IEImmunoelectrophoresis
PAPeptide Array
ICImmunocytochemistry
PEPeptide ELISA
MDMeDIP
SHIn situ hybridization
IAEnzyme Immunoassay
SEsandwich ELISA
PLProximity Ligation Assay
ECELISA(Cap)
EDELISA(Det)
BIBioimaging
IOImmunoassay
LFLateral Flow Immunoassay
LALuminex Assay
CImmunohistochemistry-Frozen Sections
PImmunohistologyp-Paraffin Sections
ISIntracellular Staining for Flow Cytometry
MSElectrophoretic Mobility Shift Assay
RIRNA Binding Protein Immunoprecipitation (RIP)
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