红细胞腺苷脱氨酶3抗体
产品名称： 红细胞腺苷脱氨酶3抗体
英文名称： AMPD3
产品编号： bs-9517R
产品价格： null
产品产地： 北京
品牌商标： BIOSS
更新时间： 2025-11-06T11:14:17
使用范围： WB=1:100-500,ELISA=1:500-1000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:50-200,
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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.