Aliases for ADSS1 Gene
External Ids for ADSS1 Gene
Previous HGNC Symbols for ADSS1 Gene
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. [provided by RefSeq, Feb 2016]
GeneCards Summary for ADSS1 Gene
ADSS1 (Adenylosuccinate Synthase 1) is a Protein Coding gene. Diseases associated with ADSS1 include Myopathy, Distal, 5 and Arthrogryposis, Distal, Type 1A. Among its related pathways are purine nucleotides de novo biosynthesis and ATP/ITP metabolism. An important paralog of this gene is ADSS2.
UniProtKB/Swiss-Prot Summary for ADSS1 Gene
Component of the purine nucleotide cycle (PNC), which interconverts IMP and AMP to regulate the nucleotide levels in various tissues, and which contributes to glycolysis and ammoniagenesis. Catalyzes the first committed step in the biosynthesis of AMP from IMP.