Chromosomal localization of the human glycoasparaginase gene to 4q32-q33.
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.
Morris
C
C
Department of Pathology, Christchurch School of Medicine, Christchurch Hospital, New Zealand.
Heisterkamp
N
N
Groffen
J
J
Williams
J C
JC
Mononen
I
I
D001227:Aspartylglucosylaminase / Q000235:genetics*; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4; D004247:DNA / Q000235:genetics; D005796:Genes; D006801:Humans; D006822:Hybrid Cells; D008677:Metaphase
D004247:DNA; D001227:Aspartylglucosylaminase