AMPD1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AMPD1 wild-type allele is located in the vicinity of 1p13.2 and is approximately 23 kb in length. This allele, which encodes AMP deaminase 1 protein, plays a role in purine metabolism in skeletal muscle cells. Mutation of the gene is associated with myopathy due to myoadenylate deaminase deficiency.

**Synonyms:** - AMP Deaminase 1 Gene - AMP Deaminase Gene - Adenosine Monophosphate Deaminase 1 (Isoform M) Gene - Adenosine Monophosphate Deaminase 1 wt Allele - Adenosine Monophosphate Deaminase-1 (Muscle) Gene - MAD - MADA - MMDD - Skeletal Muscle AMPD Gene