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Defective B3GALT6 causes EDSP2 and SEMDJL1

Stable Identifier
Homo sapiens
Locations in the PathwayBrowser

The biosynthesis of dermatan sulfate/chondroitin sulfate and heparin/heparan sulfate glycosaminoglycans (GAGs) starts with the formation of a tetrasaccharide linker sequence attached to the core protein. Beta-1,3-galactosyltransferase 6 (B3GALT6) is one of the critical enzymes involved in the formation of this linker sequence. Defects in B3GALT6 causes Ehlers-Danlos syndrome progeroid type 2 (EDSP2; MIM:615349), a severe disorder resulting in a broad spectrum of skeletal, connective tissue and wound healing problems. Defects in B3GALT6 can also cause spondyloepimetaphyseal dysplasia with joint laxity type 1 (SEMDJL1; MIM:271640), characterised by spinal deformaty and lax joints, especially of the hands and respiratory compromise resulting in early death (Nakajima et al. 2013, Malfait et al. 2013).

Participant Of
Name Identifier Synonyms
spondyloepimetaphyseal dysplasia 0080027
Ehlers-Danlos syndrome 13359 Cutis hyperelastica, elastic skin