| B4GALT7 | |
|---|---|
| Full Name | B4GALT7 (Beta-1,4-Galactosyltransferase 7) |
| Chromosomal Location | 9q33.1 |
| NCBI Gene ID | 112591 |
| OMIM | 604327 |
| UniProt ID | Q9NZH7 |
| Category | Glycosyltransferase |
The B4GALT7 gene encodes B4GALT7 (Beta-1,4-Galactosyltransferase 7), a glycosyltransferase protein. It is involved in various cellular processes relevant to neurodegeneration.
B4GALT7 encodes a member of the beta-1,4-galactosyltransferase family involved in the biosynthesis of glycosaminoglycans and proteoglycans. It plays a role in the synthesis of the tetrasaccharide linker region of proteoglycans, which are important for extracellular matrix integrity.
| Disease | Role in Disease |
|---|---|
| Ehlers-Danlos Syndrome | B4GALT7 mutations cause progeroid EDS with loose skin and joint hypermobility |
| Spastic Paraplegia | Rare association with neurological symptoms |