ADSS1, Official Symbol ADSS1provided by HGNC Official Full Name adenylosuccinate synthase 1provided by HGNC Primary source HGNC:HGNC:20093 See related Ensembl:ENSG00000185100 MIM:612498; AllianceGenome:HGNC:20093 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MPD5; ADSSL1 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. [provided by RefSeq, Feb 2016] Expression Biased expression in heart (RPKM 30.6), kidney (RPKM 9.0) and 12 other tissues See more Orthologs mouse all