Target:AMPD3
Fields:Purine metabolism;Metabolic pathways;Nucleotide metabolism
Gene Name:AMPD3
Protein Name:AMP deaminase 3
Human Gene Id:272
Human Swiss Prot No:Q01432
Mouse Gene Id:11717
Mouse Swiss Prot No:O08739
Rat Gene Id:25095
Rat Swiss Prot No:O09178
Immunogen:Synthesized peptide derived from AMPD3 . at AA range: 280-360
Specificity:AMPD3 Polyclonal Antibody detects endogenous levels of AMPD3 protein.
Formulation:Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Other Name:AMPD3;AMP deaminase 3;AMP deaminase isoform E;Erythrocyte AMP deaminase
Molecular Weight(Da):89kD
Background: This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008],
Function:catalytic activity:AMP + H(2)O = IMP + NH(3).,disease:Defects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:102772]. AMPDDE is a metabolic disorder due to lack of activity of the erythrocyte isoform of AMP deaminase. It is a clinically asymptomatic condition characterized by a 50% increase in steady-state levels of ATP in affected cells. Individuals with complete deficiency of erythrocyte AMP deaminase are healthy and have no hematologic disorders.,function:AMP deaminase plays a critical role in energy metabolism.,pathway:Purine metabolism; IMP biosynthesis via salvage pathway; IMP from AMP: step 1/1.,similarity:Belongs to the adenosine and AMP deaminases family.,subunit:Homotetramer.,tissue specificity:Three isoforms are present in mammals: AMP deaminase 1 is the predominant form in skeletal muscle; AMP deaminase 2 predominates in
Subcellular Location:cytosol,
Expression: Brain,Hippocampus,Keratinocyte,Synovial membrane tissue,