Description:
MUCOPOLYSACCHARIDOSIS TYPE II
IDURONATE 2-SULFATASE; IDS
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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 |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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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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| 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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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| iduronate-2-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.13; 0% activity. |
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| Gene |
IDS |
| Chromosomal Location |
Xq28 |
| Allelic Variant 1 |
R468P; MUCOPOLYSACCHARIDOSIS TYPE II |
| Identified Mutation |
ARG468PRO |
| Remarks |
Low-normal iduronate sulfatase activity in WBC, absent activity in plasma; donor subject is hemizygous for a G>C transversion at nucleotide 1403 of the IDS gene (1403G>C) resulting in the substitution of proline for arginine at codon 468 [Arg468Pro (R468P)] |
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