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Protein Page:
AMPD1

Overview
AMPD1 AMP deaminase plays a critical role in energy metabolism. Defects in AMPD1 are the cause of adenosine monophosphate deaminase deficiency muscle type (AMPDDM). AMPDDM is a metabolic disorder resulting in exercise-related myopathy. It is characterized by exercise-induced muscle aches, cramps, and early fatigue. Belongs to the adenosine and AMP deaminases family. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: EC 3.5.4.6; Hydrolase; Nucleotide Metabolism - purine
Chromosomal Location of Human Ortholog: 2q34
Molecular Function: AMP deaminase activity; myosin heavy chain binding
Biological Process: response to organic substance
Reference #:  P10759 (UniProtKB)
Gene Symbols: Ampd1
Molecular weight: 86,432 Da
Basal Isoelectric point: 6.51  Predict pI for various phosphorylation states
Select Structure to View Below

AMPD1

Protein Structure Not Found.

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