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1: Hum Genet. 1992 Jan;88(3):295-7.Links

Chromosomal localization of the human glycoasparaginase gene to 4q32-q33.

Morris C, Heisterkamp N, Groffen J, Williams JC, Mononen I.

Department of Pathology, Christchurch School of Medicine, Christchurch Hospital, New Zealand.

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.

PMID: 1733831 [PubMed - indexed for MEDLINE]