HUMAN LYSOSOMAL ALPHA-MANNOSIDASE - ISOLATION AND NUCLEOTIDE-SEQUENCE OF THE FULL-LENGTH CDNA

被引:43
作者
NEBES, VL [1 ]
SCHMIDT, MC [1 ]
机构
[1] UNIV PITTSBURGH,SCH MED,DEPT MOLEC GENET & BIOCHEM,PITTSBURGH,PA 15261
关键词
D O I
10.1006/bbrc.1994.1440
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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. (C) 1994 Academic Press, Inc.
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页码:239 / 245
页数:7
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