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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 |
|---|---|---|---|
| 6677 | SPAM1 | sperm adhesion molecule 1 | |
| 8534 | CHST1 | carbohydrate sulfotransferase 1 | |
| 8692 | HYAL2 | hyaluronidase 2 | |
| 9060 | PAPSS2 | 3'-phosphoadenosine 5'-phosphosulfate synthase 2 | |
| 9394 | HS6ST1 | heparan sulfate 6-O-sulfotransferase 1 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 10020 | GNE | glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 10724 | OGA | O-GlcNAcase | |
| 11285 | B4GALT7 | beta-1,4-galactosyltransferase 7 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05186 | Alkaline phosphatase, tissue-nonspecific isozyme | |
| P07741 | Adenine phosphoribosyltransferase | |
| P08236 | Beta-glucuronidase | |
| P10619 | Lysosomal protective protein | |
| P15289 | Arylsulfatase A | |
| P15586 | N-acetylglucosamine-6-sulfatase | |
| P15813 | Antigen-presenting glycoprotein CD1d | |
| P15848 | Arylsulfatase B | |
| P16112 | Aggrecan core protein | |
| P16278 | Beta-galactosidase |
