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Gene : ASS1 Homo sapiens

Name  ? argininosuccinate synthase 1 Cytological Location  9q34.11
Brief Description  argininosuccinate synthase 1
Description  The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
  • synonyms:
  • ASS,
  • HGNC:758,
  • ASS,
  • argininosuccinate synthetase,
  • CTLN1,
  • CTLN1,
  • OTTHUMG00000020806,
  • uc004bzn.4,
  • NM_000050,
  • X01630,
  • ASS1
  • identifiers:
  • 445,
  • ENSG00000130707,
  • ASS1

Genome feature

Region: gene ? Length: 56568  
Location: 9:130444707-130501274 Cyto location: 9q34.11


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.

Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

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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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

183 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results