NP_000027.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
89,763 Da
NCBI Official Full Name
adenosine monophosphate deaminase 1 (isoform M)
NCBI Official Synonym Full Names
adenosine monophosphate deaminase 1
NCBI Protein Information
AMP deaminase 1
UniProt Protein Name
AMP deaminase 1
UniProt Synonym Protein Names
AMP deaminase isoform M; Myoadenylate deaminase
UniProt Entry Name
AMPD1_HUMAN
NCBI Summary for AMPD1
Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]
UniProt Comments for AMPD1
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.
Protein type: Nucleotide Metabolism - purine; Hydrolase; EC 3.5.4.6
Chromosomal Location of Human Ortholog: 1p13
Cellular Component: cytosol
Molecular Function: AMP deaminase activity; metal ion binding; myosin heavy chain binding
Biological Process: IMP salvage; purine salvage; response to organic substance
Disease: Myopathy Due To Myoadenylate Deaminase Deficiency
Research Articles on AMPD1
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Pathways associated with anti-AMPD1 antibody
Diseases associated with anti-AMPD1 antibody
Organs/Tissues associated with anti-AMPD1 antibody
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