基因名：
AMPD3
产品别名：
AMPD3； adenosine monophosphate deaminase 3； adenosine monophosphate deaminase 3； AMP deaminase 3； AMP aminohydrolase； adenosine monophosphate deaminase (isoform E)； erythrocyte AMP deaminase； erythrocyte type AMP deaminase； erythrocyte-specific AMP deaminase； myoadenylate deaminase； 单磷酸腺苷脱氨酶3(AMPD3)； 红细胞腺苷脱氨酶3；
背景信息：
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.
