NA00629
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIA
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
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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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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 |
3 |
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| N-sulfoglucosamine sulfohydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.10.1.1 |
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| Gene |
SGSH |
| Chromosomal Location |
17q25.3 |
| Allelic Variant 1 |
605270.0003; SANFILIPPO SYNDROME A |
| Identified Mutation |
SER66TRP; A C-to-G transition results in the non-conservative amino acid exchange of ser66-to-trp (S66W). |
| Remarks |
Deficient heparan sulfate sulfatase; normal alpha-D-glucosaminidase activity; donor subject is a compound heterozygote: one allele has a missense mutation (C>G) at nucleotide 209 (209C>G) of the SGSH gene [Ser66Trp(S66W)]; no changes detected in other allele |
| Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ, Molecular defects in Sanfilippo syndrome type A. Hum Mol Genet6:787-91 1997 |
| PubMed ID: 9158154 |
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