QuickView for AMPD1 (gene)

Gene Symbol:

AMPD1 Homo sapiens

Full name:

adenosine monophosphate deaminase 1

Synonyms:

MAD, MADA, MMDD, AMP deaminase 1, AMPD, adenosine monophosphate deaminase 1 (isoform M), adenosine monophosphate deaminase-1 (muscle), myoadenylate deaminase, skeletal muscle AMPD

Genomic Location:

Chr 1: 115017245-115039699

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 exer...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Danio rerio ,  Pan troglodytes ,  Bos taurus ,  Canis lupus familiaris ,  Gallus gallus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AREB6_02 ,  RSRFC4_01 ,  RSRFC4_Q2 ,  CTAWWWATA_RSRFC4_Q2 ,  MEF2_02 ,  TATAAA_TATA_01 ,  CAGGTG_E12_Q6 ,  MEF2_03 ,  TATA_01 ,  TBP_01 ,  YWATTWNNRGCT_UNKNOWN

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Cytogenetic Map:

1p13.2

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