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Gene : AMPD1 Homo sapiens

Name  ? adenosine monophosphate deaminase 1 Cytological Location  1p13.2
Brief Description  adenosine monophosphate deaminase 1
Description  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]
  • synonyms:
  • MMDD,
  • NM_000036,
  • M60092,
  • skeletal muscle AMPD,
  • adenosine monophosphate deaminase 1 (isoform M),
  • MAD,
  • MAD,
  • AMPD1,
  • uc001efe.3,
  • MADA,
  • HGNC:468,
  • MADA,
  • OTTHUMG00000011892,
  • AMPD isoform M
  • identifiers:
  • 270,
  • ENSG00000116748,
  • AMPD1

Genome feature

Region: gene ? Length: 22521  
Location: 1:114673098-114695618 reverse strand Cyto location: 1p13.2

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1 Diseases

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558 SNPs

5 Cross References

18 Data Sets

8 Homologues

0 Located Features

97 Rna Seq Results