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Gene : ADSSL1 Homo sapiens

Name  ? adenylosuccinate synthase like 1 Cytological Location  14q32.33
Brief Description  adenylosuccinate synthase like 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:
  • HGNC:20093,
  • MPD5,
  • NM_001320424,
  • AK095921,
  • FLJ38602,
  • OTTHUMG00000170818,
  • ADSSL1,
  • uc001ypd.5
  • identifiers:
  • 122622,
  • ENSG00000185100,
  • ADSSL1

Genome feature

Region: gene ? Length: 23129  
Location: 14:104724197-104747325 Cyto location: 14q32.33


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

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Disease

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]

Homology

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Interactions

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Expression

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

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Other

2011 SN Ps

5 Cross References

18 Data Sets

7 Homologues

0 Located Features

90 Rna Seq Results