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Gene : ADSL Homo sapiens

Name  ? adenylosuccinate lyase Cytological Location  22q13.1
Brief Description  adenylosuccinate lyase
description  The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
  • synonyms:
  • uc003ayp.5,
  • OTTHUMG00000166425,
  • HGNC:291,
  • ASASE,
  • ASL,
  • ADSL,
  • AMPS,
  • X65867,
  • NM_000026
  • identifiers:
  • 158,
  • ENSG00000239900,
  • ADSL

Genome feature

Region: gene ? Length: 40909  
Location: 22:40346500-40387408 Cyto location: 22q13.1


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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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Gene --> Orthologues

Interactions

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Gene --> Physical and Genetic Interactions

Expression

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

Gene Ontology

Gene --> GO terms.

 

Other

193 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

90 Rna Seq Results