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Literature summary for 3.1.6.4 extracted from

  • Laradi, S.; Tukel, T.; Khediri, S.; Shabbeer, J.; Erazo, M.; Chkioua, L.; Chaabouni, M.; Ferchichi, S.; Miled, A.; Desnick, R.J.
    Mucopolysaccharidosis type IV: N-acetylgalactosamine-6-sulfatase mutations in Tunisian patients (2006), Mol. Genet. Metab., 87, 213-218.
    View publication on PubMed
Search for more literature for 3.1.6.4

Cloned(Commentary)

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

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

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
 Homo sapiens 5764
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
60000
-
 2 * 60000 Homo sapiens
120000
-
 about Homo sapiens

Natural Substrates/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens
-
 six tunisian individuals from four families
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein
-
 Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
leukocyte
-
 Homo sapiens
-

Substrates and Products (Substrate)

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

Subunits Comment Organism
dimer 2 * 60000 Homo sapiens

Synonyms

Synonyms Comment Organism
GALNS
-
 Homo sapiens