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mucopolysaccharidosis IV
Summary
- Synonym
-
- Mucopolysaccharidosis, MPS-IV
- deficiency of N-acetylgalactosamine-6-sulphatase
- deficiency of chondroitinsulphatase
- galactosamine-6-sulfatase deficiency
- Definition
- A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain.
- Super Class
- mucopolysaccharidosis
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 22901 | ARSG | arylsulfatase G | |
| 23169 | SLC35D1 | solute carrier family 35 member D1 | |
| 23443 | SLC35A3 | solute carrier family 35 member A3 | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 54187 | NANS | N-acetylneuraminate synthase | |
| 64131 | XYLT1 | xylosyltransferase 1 | |
| 79158 | GNPTAB | N-acetylglucosamine-1-phosphate transferase subunits alpha and beta | |
| 79796 | ALG9 | ALG9 alpha-1,2-mannosyltransferase | |
| 84572 | GNPTG | N-acetylglucosamine-1-phosphate transferase subunit gamma |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8NES3 | Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe | |
| Q96EG1 | Arylsulfatase G | |
| Q99519 | Sialidase-1 | |
| Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
| Q9NR45 | Sialic acid synthase | |
| Q9UBQ6 | Exostosin-like 2 | |
| Q9UBV7 | Beta-1,4-galactosyltransferase 7 | |
| Q9UJJ9 | N-acetylglucosamine-1-phosphotransferase subunit gamma | |
| Q9Y2D2 | UDP-N-acetylglucosamine transporter |
