NA02049
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 |
0.050mg |
| 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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Family Member
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3
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Relation to Proband
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father
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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 |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase 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; 50% activity. |
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| Gene |
MAN2B1 |
| Chromosomal Location |
19cen-q12 |
| Allelic Variant 1 |
609458.0001; MANNOSIDOSIS, ALPHA B, LYSOSOMAL |
| Identified Mutation |
HIS71LEU |
| Remarks |
Arab; approximately 50% of normal alphamannosidase activity; 2 affected children; clinically unaffected father of GM02050 and 02051; donor subject is heterozygous for an A>T transversion at nucleotide 212 in exon 2 of the MAN2B1 gene ( 212A>T) resulting in the substitution of leucine for histidine at codon 71 [His71Leu (H71L)] |
| Nilssen O, Berg T, Riise HM, Ramachandran U, Evjen G, Hansen GM, Malm D, Tranebjaerg L, Tollersrud OK, alpha-Mannosidosis: functional cloning of the lysosomal alpha-mannosidase cDNA and identification of a mutation in two affected siblings. Hum Mol Genet6(5):717-26 1997 |
| PubMed ID: 9158146 |
| dbSNP |
dbSNP ID: 10477 |
| 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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