Description:
MANNOSIDOSIS, ALPHA B, LYSOSOMAL
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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 |
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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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 |
8 |
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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; 3% activity. |
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| Remarks |
Clinically affected; splenomegaly; mild developmental delay; kyphosis at an early age; two tibial fractures; coarse facies; mild extension of fingers; in fibroblasts 5.8 alpha D-mannopyranoside nmoles/mg protein per hour (normal 180 + or - 53) |
| 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 |
| OMIM |
248500 MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA |
| 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 |
| Passage Frozen |
8 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
8% |
| Medium |
Dulbecco Modified Eagles Medium (high glucose) with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
Sodium Pyruvate 100mM |
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