Gene: AMPD1

Alternate names for this Gene: MAD|MADA|MMDD

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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p13.2

Description of this Gene: adenosine monophosphate deaminase 1

Type of Gene: protein-coding

rs926938 in AMPD1 gene and Autistic Disorder PMID 24189344 2014 Common genetic variants on 1p13.2 associate with risk of autism.

rs121912682 in AMPD1 gene and MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY PMID 11102975 2000 First missense mutations (R388W and R425H) of AMPD1 accompanied with myopathy found in a Japanese patient.