The team of Dr Shiro IKEGAWA, in collaboration with several university groups, identified the human gene B3GALT6 as the cause of a wide range of hereditary anomalies in bone, joint and cartilage formation. The gene product, an enzyme, is involved in the bio synthesis of a glycosaminoglycans (GAG) linker region in the sugar chains of proteoglycans.

Masahiro NAKAJIMA et al., The American Journal of Human Genetics, May 8, 2013, doi:10.1016/j.ajhg.2013.04.003