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...
Topics
- Amino Acid Sequence
- Animals
- Aspartylglucosaminuria
- Aspartylglucosylaminase
- Base Sequence
- Carbohydrate Metabolism, Inborn Errors
- Cell Line
- Chromosomes, Human, Pair 4
- Cloning, Molecular
- DNA