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Gene : ADSS1 Homo sapiens

Name  ? adenylosuccinate synthase 1 Cytological Location  14q32.33
Brief Description  adenylosuccinate synthase 1
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 splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]
  • synonyms:
  • MPD5,
  • OTTHUMG00000170818,
  • HGNC:20093,
  • ADSSL1,
  • ADSSL1,
  • AK095921,
  • ADSS1,
  • uc001ypd.5,
  • adenylosuccinate synthase like 1,
  • NM_001320424,
  • FLJ38602
  • identifiers:
  • 122622,
  • ENSG00000185100,
  • ADSS1

Genome feature

Region: gene ? Length: 23125  
Location: 14:104724201-104747325 Cyto location: 14q32.33

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results