Literature summary for 2.4.1.50 extracted from

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, M.H.; Ebrahimiadib, N.; Hausser, I.; Huysseune, A.; Fournel-Gigleux, S.; De Paepe, A.
Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-Syndrome-like connective tissue disorder (2013), Am. J. Hum. Genet., 92, 935-945.

Protein Variants

Protein Variants	Comment	Organism
D207H	the mutation is associated with skin fragility, delayed wound healing, joint hyperlaxity and contractures, muscle hypotonia, intellectual disability, and a spondyloepimetaphyseal dysplasia with bone fragility and severe kyphoscoliosis	Homo sapiens
G217S	the mutation is associated with skin fragility, delayed wound healing, joint hyperlaxity and contractures, muscle hypotonia, intellectual disability, and a spondyloepimetaphyseal dysplasia with bone fragility and severe kyphoscoliosis	Homo sapiens

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

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Release 2023.1 (January 2023)