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cherubism
Summary
- Definition
- A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
- Super Class
- autosomal dominant disease skin disease
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 8658 | TNKS | tankyrase | |
| 10855 | HPSE | heparanase | |
| 23583 | SMUG1 | single-strand-selective monofunctional uracil-DNA glycosylase 1 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 126792 | B3GALT6 | beta-1,3-galactosyltransferase 6 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q16394 | Exostosin-1 | |
| Q93063 | Exostosin-2 | |
| Q96L58 | Beta-1,3-galactosyltransferase 6 | |
| Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 | |
| Q9Y251 | Heparanase |
