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Rabbit Anti-AMPD3/FITC Conjugated antibody
background:
AMP deaminase plays a critical role in energy metabolism.
Involvement in disease
Defects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE); also known as erythrocyte AMP deaminase deficiency. 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.
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 smooth muscle, non-muscle tissue, embryonic muscle and undifferentiated myoblasts; AMP deaminase 3 is found in erythrocytes.
DISEASE:
Defects in AMPD3 are the cause of adenosine monophosphate deaminase deficiency erythrocyte type (AMPDDE) [MIM:612874]; also known as erythrocyte AMP deaminase deficiency. 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.
Similarity:
Belongs to the adenosine and AMP deaminases family.
Database links:
Entrez Gene: 272 Human
Entrez Gene: 11717 Mouse
Entrez Gene: 25095 Rat
NCBI: NP_001020560 Human
Omim: 102772 Human
SwissProt: Q01432 Human
SwissProt: O08739 Mouse
SwissProt: O09178 Rat
Unigene: 501890 Human
Unigene: 3238 Mouse
Unigene: 11106 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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