This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| HGSNAT-20-RE | 20 (40 μL) | 200 μL |  |
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| HGSNAT-20-OR | 20 (40 μL) | 200 μL |  |
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| HGSNAT-20-GO | 20 (40 μL) | 200 μL |  |
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| HGSNAT-20-GR | 20 (40 μL) | 200 μL |  |
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| HGSNAT-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a lysosomal acetyltransferase, which is one of several enzymes involved in the lysosomal degradation of heparin sulfate. Mutations in this gene are associated with Sanfilippo syndrome C, one type of the lysosomal storage disease mucopolysaccaridosis III, which results from impaired degradation of heparan sulfate. [provided by RefSeq, Jan 2009]
Gene Symbol : HGSNAT
Gene Name : Heparan-alpha-glucosaminide N-acetyltransferase
Chromosome : CHR 8: 431,404,48-432,028,26
Locus : 8p11.21-p11.1
Alt. Genes : SGK2
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