This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SGSH-20-RE | 20 (40 μL) | 200 μL |  |
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| SGSH-20-OR | 20 (40 μL) | 200 μL |  |
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| SGSH-20-GO | 20 (40 μL) | 200 μL |  |
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| SGSH-20-GR | 20 (40 μL) | 200 μL |  |
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| SGSH-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes the enzyme sulfamidase; one of several enzymes involved in the lysosomal degradation of heparan sulfate. Mutations in this gene are associated with the lysosomal storage disease mucopolysaccaridosis IIIA, also known as Sanfilippo syndrome A, which results from impaired degradation of heparan sulfate. Transcripts of varying sizes have been reported but their biological validity has not been determined. [provided by RefSeq, Jun 2017]
Gene Symbol : SGSH
Gene Name : N-sulfoglucosamine sulfohydrolase
Chromosome : CHR 17: 802,203,99-802,006,67
Locus : 17q25.3
Alt. Genes : HIPK3
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