Cloned (Comment) | Organism |
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R297X and F48L mutant alleles are engineered into the wild-type alpha-N-acetylglucosaminidase and expressed in Chinese hamster ovary cells. Wild-type enzyme and F48L mutant alleles are retrovirally expressed in mucopolysaccharidosis type IIIB skin fibroblasts | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | mucopolysaccharidosis type IIIB is a lysosomal storage disorder characterized by the defective degradation of heparan sulfate due to a deficiency of alpha-N-acetylglucosaminidase. The clinical severity of mucopolysacchariddosis type IIIB ranges from an attenuated to severely affected Sanfilippo phenotype. Relationship between genotype, cellular biochemistry and clinical phenotype in a F48L/R297X compound heterozygous mucopolysaccharidosis type IIIB patient with an attenuated Sanfilippo phenotype | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | mucopolysaccharidosis type IIIB is a lysosomal storage disorder characterized by the defective degradation of heparan sulfate due to a deficiency of alpha-N-acetylglucosaminidase. The clinical severity of mucopolysacchariddosis type IIIB ranges from an attenuated to severely affected Sanfilippo phenotype. Relationship between genotype, cellular biochemistry and clinical phenotype in a F48L/R297X compound heterozygous mucopolysaccharidosis type IIIB patient with an attenuated Sanfilippo phenotype | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
NAG | - |
Homo sapiens |