B4GALT7 belongs to the glycosyltransferase 7 family. It is required for the biosynthesis of the tetrasaccharide linkage region of proteoglycans, especially for small proteoglycans in skin fibroblasts.
Defects in B4GALT7 are the cause of progeroid Ehlers-Danlos syndrome (EDS). EDSP is a variant form of Ehlers-Danlos syndrome characterized by progeroid facies, mild mental retardation, short stature, skin hyperextensibility, moderate skin fragility, joint hypermobility principally in digits.
Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein.
Note: Cis cisternae of Golgi stack
ab161405 on a 12.5% SDS-PAGE stained with Coomassie Blue.
has not yet been referenced specifically in any publications.
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