title: Human lysosomal alpha-mannosidase: isolation and nucleotide sequence of the full-length cDNA.
abstract: The amino acid sequence of the human lysosomal alpha-mannosidase precursor has been deduced by PCR mediated cloning and sequencing of the cDNA. The protein has 961 amino acids and a molecular weight of 107,644 Daltons. The amino acid sequence shows 38% identity to the Dictyostelium discoideum lysosomal alpha-mannosidase. The cDNA maps proximal to the centromere on chromosome 19q, the same locus as the MANB gene. Our results provide valuable information for the study of the lysosomal storage disease alpha-mannosidosis, an inherited disorder caused by mutations in the MANB gene which encodes the human lysosomal alpha-mannosidase.
authors.affiliation: Dept. of Ophthalmology, Allegheny-Singer Research Institute, Pittsburgh, PA 15212.
authors.forename: V L
authors.initials: VL
authors.lastname: Nebes
authors.forename: M C
authors.initials: MC
authors.lastname: Schmidt
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D003001:Cloning, Molecular; D016384:Consensus Sequence; D017931:DNA Primers; D018076:DNA, Complementary / Q000032:analysis; D004023:Dictyostelium / Q000201:enzymology / Q000235:genetics; D015723:Gene Library; D006367:HeLa Cells; D006801:Humans; D008247:Lysosomes / Q000201:enzymology*; D008361:Mannosidases / Q000737:chemistry* / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D008970:Molecular Weight; D016133:Polymerase Chain Reaction / Q000379:methods; D051381:Rats; D017386:Sequence Homology, Amino Acid; D043323:alpha-Mannosidase
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D008361:Mannosidases; D043323:alpha-Mannosidase