NA00654
DNA from Fibroblast
Description:
MANNOSIDOSIS, ALPHA B, LYSOSOMAL
MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Ethnicity
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FINNISH
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| alpha-mannosidase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.24 |
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| Gene |
MAN2B1 |
| Chromosomal Location |
19cen-q12 |
| Allelic Variant 1 |
609458.0003; MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| Identified Mutation |
GLN639TER |
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| Gene |
MAN2B1 |
| Chromosomal Location |
19cen-q12 |
| Allelic Variant 2 |
609458.0004; MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| Identified Mutation |
ARG750TRP |
| Remarks |
Clinically affected; deficient alpha-mannosidase; Finnish; mild clinical phenotype; psychomotor retardation after age 1 year; recurring infections; hearing loss; impaired speech; coarse facial features; donor subject is a compound heterozygote: one allele has a C>T transition in exon 15 of the MAN2B1 gene resulting in the substitution of a termination signal for glutamine at codon 639 [Gln639Ter (Q639X)]; the second allele has a C>T transition at nucleotide 2248 in exon 18 (2248C>T) resulting in the substitution of tryptophan for arginine at codon 750 [Arg750Trp (R750W)] |
| Berg T, Riise HM, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, Nilssen O, Spectrum of mutations in alpha-mannosidosis. Am J Hum Genet64(1):77-88 1999 |
| PubMed ID: 9915946 |
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| Gotoda Y, Wakamatsu N, Kawai H, Nishida Y, Matsumoto T, Missense and nonsense mutations in the lysosomal alpha-mannosidase gene (MANB)
in severe and mild forms of alpha-mannosidosis. Am J Hum Genet63(4):1015-24 1998 |
| PubMed ID: 9758606 |
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| Koch GA, Eddy RL, Haley LL, Byers MG, McAvoy M, Shows TB, Assignment of the human phosphoserine phosphatase gene (PSP) to the pter leads to q22 region of chromosome 7. Cytogenet Cell Genet35:67-9 1983 |
| PubMed ID: 6297854 |
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| Naylor SL, Sakaguchi AY, Shows TB, Grzeschik KH, Holmes M, Zasloff M, Two nonallelic tRNAiMet genes are located in the p23 leads to q12 region of human chromosome 6. Proc Natl Acad Sci U S A80:5027-31 1983 |
| PubMed ID: 6308668 |
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| Shows TB, Mueller OT, Honey NK, Wright CE, Miller AL, Genetic heterogeneity of I-cell disease is demonstrated by complementation of lysosomal enzyme processing mutants. Am J Med Genet12:343-53 1982 |
| PubMed ID: 6287841 |
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| Andria G, Sly WS, Intermediate golgi alpha-D-mannosidosis and mucolipidosis II and III. Pediatr Res15:70-3 1981 |
| PubMed ID: 7208171 |
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| Owerbach D, Bell GI, Rutter WJ, Brown JA, Shows TB, The insulin gene is located on the short arm of chromosome 11 in humans. Diabetes30:267-70 1981 |
| PubMed ID: 7009275 |
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| Owerbach D, Rutter WJ, Cooke NE, Martial JA, Shows TB, The prolactin gene is located on chromosome 6 in humans. Science212:815-6 1981 |
| PubMed ID: 7221563 |
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| Hohmann P, Species- and cell-specific expression of H1 histones in tissue culture cells. Arch Biochem Biophys205:198-209 1980 |
| PubMed ID: 7447476 |
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| Owerbach D, Rutter WJ, Shows TB, Gray P, Goeddel DV, Lawn RM, Leukocyte and fibroblast interferon genes are located on human chromosome 9. Proc Natl Acad Sci U S A78:3123-7 1980 |
| PubMed ID: 6166943 |
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| Shows TB, Scrafford-Wolff LR, Brown JA, Meisler MH, GM1-gangliosidosis: chromosome 3 assignment of the beta-galactosidase-A gene (beta GALA). Somatic Cell Genet5:147-58 1979 |
| PubMed ID: 113895 |
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| Champion MJ, Shows TB, Mannosidosis: assignment of the lysosomal alpha-mannosidase B gene to chromosome 19 in man. Proc Natl Acad Sci U S A74:2968-72 1977 |
| PubMed ID: 318154 |
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| Beaudet AL, Nichols BL Jr, Residual altered alpha-mannosidase in human mannosidosis. Biochem Biophys Res Commun68:292-8 1976 |
| PubMed ID: 942582 |
| dbSNP |
dbSNP ID: 19457 |
| Gene Cards |
MAN2B1 |
| Gene Ontology |
GO:0004559 alpha-mannosidase activity |
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GO:0005764 lysosome |
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GO:0005975 carbohydrate metabolism |
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GO:0006464 protein modification |
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GO:0006517 protein deglycosylation |
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GO:0016798 hydrolase activity, acting on glycosyl bonds |
| NCBI Gene |
Gene ID:4125 |
| NCBI GTR |
248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA |
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609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 |
| OMIM |
248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA |
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609458 MANNOSIDASE, ALPHA, CLASS 2B, MEMBER 1; MAN2B1 |
| Omim Description |
ALPHA-MANNOSIDASE B DEFICIENCYMANNOSIDASE, ALPHA B, LYSOSOMAL, INCLUDED; MANB, INCLUDED |
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ALPHA-MANNOSIDOSIS |
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LYSOSOMAL ALPHA-D-MANNOSIDASE DEFICIENCY |
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MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
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