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Article

Aspartylglucosaminuria: cDNA encoding human aspartylglucosaminidase and the missense mutation causing the disease.

The EMBO journal - 1 Jan 1991

Ikonen E, Baumann M, Grön K, Syvänen A C, Enomaa N, Halila R, Aula P, Peltonen L

Abstract excerpt

We have isolated a 2.1 kb cDNA which encodes human aspartylglucosaminidase (AGA, E.C. 3.5.1.26). The activity of this lysosomal enzyme is deficient in aspartylglucosaminuria (AGU), a recessively inherited lysosomal accumulation disease resulting in severe mental retardation. The polypeptide chain deduced from the AGA cDNA consists of 346 amino acids, has two potential N-glycosylation sites and 11 cysteine...

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Source

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Identifiers

PMID: 1703489
DOI: 10.1002/j.1460-2075.1991.tb07920.x
PMCID: PMC452610

Genes

AGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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