QuickView for ADSSL1 (gene)

Gene Symbol:

ADSSL1 Homo sapiens

Full name:

adenylosuccinate synthase like 1

Synonyms:

MPD5, adenylosuccinate synthetase isozyme 1, AMPSase 1, IMP--aspartate ligase 1, M-type adenylosuccinate synthetase, adSS 1, adenylosuccinate synthetase, basic isozyme, adenylosuccinate synthetase, muscle isozyme

Genomic Location:

Chr 14: 104261579-104284692

Description:

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 ...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Schizosaccharomyces pombe ,  Danio rerio ,  Pan troglodytes ,  Canis lupus familiaris ,  Gallus gallus ,  Bos taurus

External Links:

Entrez Gene

Cytogenetic Map:

14q32.33

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