ADSS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ADSS1 wild-type allele is located in the vicinity of 14q32.33 and is approximately 23 kb in length. This allele, which encodes adenylosuccinate synthetase isozyme 1 protein, plays a role in the purine nucleotide cycle to synthesize adenosine monophosphate (AMP). Mutations in the gene are associated with adolescent onset distal myopathy 5.

**Synonyms:** - ADSSL1 - Adenylosuccinate Synthase 1 wt Allele - Adenylosuccinate Synthase Like 1 Gene - Adenylosuccinate Synthetase-Like 1 Gene - FLJ38602 - MPD5