Gene Symbol | ADSS1 |
Entrez Gene ID | 122622 |
Full Name | adenylosuccinate synthase like 1 |
Synonyms | MPD5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Myopathy, distal, 5, 617030 (3) |