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ADSL adenylosuccinate lyase

Also known as: ASL; AMPS; ASASE

Summary

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]

Associated conditions

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DescriptionTests
Adenylosuccinate lyase deficiency
MedGen: C0268126OMIM: 103050GeneReviews: Not available
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Genomic context

Location:
22q13.1
Sequence:
Chromosome: 22; NC_000022.11 (40346500..40387408)
Total number of exons:
15

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