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Chromosomal localization of the human glycoasparaginase gene to 4q32–q33

✍ Scribed by Christine Morris; Nora Heisterkamp; John Groffen; Julian C. Williams; Ilkka Mononen

Publisher
Springer
Year
1992
Tongue
English
Weight
268 KB
Volume
88
Category
Article
ISSN
0340-6717

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✦ Synopsis

Glycoasparaginase cleaves the N-glycosidic linkage between asparagine and N-acetylglucosamine in the degradation of glycoproteins. In humans, a deficient activity of glycoasparaginase results in accumulation of glycoasparagines, causing the lysosomal storage disease aspartylglycosaminuria. Recombinant plasmid containing the cDNA insert encoding human glycoasparaginase was used to localize the enzyme to chromosome 4q32-q33 by in situ hybridization to metaphase chromosomes prepared from normal human lymphocytes.

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