Gene: ADSS1

Alternate names for this Gene: ADSSL1|MPD5

Gene Summary: This gene encodes a member of the adenylosuccinate synthase family of proteins. The encoded muscle-specific enzyme plays a role in the purine nucleotide cycle by catalyzing the first step in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP). Mutations in this gene may cause adolescent onset distal myopathy. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 14

Location in Chromosome : 14q32.33

Description of this Gene: adenylosuccinate synthase 1

Type of Gene: protein-coding