AMPD1

GENE INFORMATION

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Gene name

AMPD1 (HGNC Symbol)

Synonyms

MAD, MADA

Description

Adenosine monophosphate deaminase 1 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

1

Cytoband

p13.2

Chromosome location (bp)

114673098 - 114695618

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000116748 (version 78.38)

Entrez gene

270

UniProt

P23109 (UniProt - Evidence at protein level)

neXtProt

NX_P23109

Antibodypedia

AMPD1 antibodies
 

PROTEIN VIEW

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AMPD1-001
 
AMPD1-002
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

AMPD1-001 ENSP00000430075
ENST00000520113
P23109
Show all »
Show » Show » 780 90.2 Yes 0
AMPD1-002 ENSP00000358551
ENST00000369538
P23109
Show all »
Show » Show » 776 89.8 Yes 0