Defective B3GALT6 causes EDSP2 and SEMDJL1

Stable Identifier
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
23664118 Defective Initiation of Glycosaminoglycan Synthesis due to B3GALT6 Mutations Causes a Pleiotropic Ehlers-Danlos Syndrome-like Connective Tissue Disorder

Malfait, F, Kariminejad, A, Van Damme, T, Gauche, C, Syx, D, Merhi-Soussi, F, Gulberti, S, Symoens, S, Vanhauwaert, S, Willaert, A, Bozorgmehr, B, Kariminejad, MH, Ebrahimiadib, N, Hausser, I, Huysseune, A, Fournel-Gigleux, S, De Paepe, A

Am. J. Hum. Genet. 2013
23664117 Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders

Nakajima, M, Mizumoto, S, Miyake, N, Kogawa, R, Iida, A, Ito, H, Kitoh, H, Hirayama, A, Mitsubuchi, H, Miyazaki, O, Kosaki, R, Horikawa, R, Lai, A, Mendoza-Londono, R, Dupuis, L, Chitayat, D, Howard, A, Leal, GF, Cavalcanti, D, Tsurusaki, Y, Saitsu, H, Watanabe, S, Lausch, E, Unger, S, Bonafe, L, Ohashi, H, Superti-Furga, A, Matsumoto, N, Sugahara, K, Nishimura, G, Ikegawa, S

Am. J. Hum. Genet. 2013
Participant Of
Name Identifier Synonyms
spondyloepimetaphyseal dysplasia 0080027
Ehlers-Danlos syndrome 13359 Cutis hyperelastica, elastic skin