Cloned (Comment) | Organism |
---|---|
the GALNS gene is located on chromosome 16q24.3, DNA and amino acid sequence determination and analysis of wild-type and mutant genes | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
L67M | N-acetylgalactosamine-6-sulfatase mutation of a mucopolysaccharidosis type IV tunisian patient | Homo sapiens |
additional information | N-acetylgalactosamine-6-sulfatase mutations in tunisian patients cause mucopolysaccharidosis type IV, sequence determinations and mutation analysis, polymorphisms, phylogenesis, overview | Homo sapiens |
Localization | Comment | Organism | GeneOntology No. | Textmining |
---|---|---|---|---|
lysosome | - |
Homo sapiens | 5764 | - |
Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|
60000 | - |
2 * 60000 | Homo sapiens |
120000 | - |
about | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | enzyme deficiency causes mucopolysaccharidosis type IV, i.e. Morquio A syndrome, an autosomal recessive inborn error, due to accumulation of sulfated glycosaminoglycans in lysosomes, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
six tunisian individuals from four families | - |
Posttranslational Modification | Comment | Organism |
---|---|---|
glycoprotein | - |
Homo sapiens |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
leukocyte | - |
Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
4-methylumbelliferyl-beta-D-galactose-6-sulfate + H2O | - |
Homo sapiens | 4-methylumbelliferyl-beta-D-galactose + sulfate | - |
? | |
additional information | enzyme deficiency causes mucopolysaccharidosis type IV, i.e. Morquio A syndrome, an autosomal recessive inborn error, due to accumulation of sulfated glycosaminoglycans in lysosomes, overview | Homo sapiens | ? | - |
? |
Subunits | Comment | Organism |
---|---|---|
dimer | 2 * 60000 | Homo sapiens |
Synonyms | Comment | Organism |
---|---|---|
GALNS | - |
Homo sapiens |