Title: Isolation, characterization, and expression of cDNAs encoding murine alpha-mannosidase II, a Golgi enzyme that controls conversion of high mannose to complex N-glycans Document date: 1991_12_2
ID: qrg1rtzi_47
Snippet: The identification of a deficiency in Man II expression as the causative agent in one form of HEMPAS disease (12), a heterogeneous autosomal disease characterized by a defect in the synthesis of cellular and secreted glycoproteins (13) , has focused our interest on the genomic structure of Man II and the regulation ofgene expression . As a first step we have presented the cloning and expression of murine Man II cDNA. In addition we have localized.....
Document: The identification of a deficiency in Man II expression as the causative agent in one form of HEMPAS disease (12), a heterogeneous autosomal disease characterized by a defect in the synthesis of cellular and secreted glycoproteins (13) , has focused our interest on the genomic structure of Man II and the regulation ofgene expression . As a first step we have presented the cloning and expression of murine Man II cDNA. In addition we have localized the human Man II gene to chromosome 5. Further characterization of full length human Man II cDNA and genomic clones should allow us to determine the molecular basis of the Man II deficiency in HEMPAS disease and the regulatory features of the processing enzymes responsible for these maturation of cellular and secreted N-glycans.
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