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The solute carrier family Slc35 consists of at least 17 proteins that act as nucleotide sugar transporters localized to the Golgi apparatus and endoplasmic reticulum. The role of the ER-resident Slc family member Slc35D1 is to transport both UDP-glucuronic acid and UDP-N-acetylgalactosamine. These molecules can serve as substrates for chondroitin sulfate biosynthesis and mice lacking the Slc35D1 gene developed a lethal form of skeletal dysplasia with severe shortening of limbs and facial structures. Examination of epiphyseal cartilage in these mice revealed a decreased proliferating zone with round chrondrocytes, scarce matrices, and reduced proteoglycan aggregates. Loss of function mutations in human Slc35D1 cause Schneckenbecken dysplasia, a severe skeletal dysplasia.
AI834976; C330011J09; KIAA0260; mKIAA0260; SLC35D1; solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1; solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1; solute carrier family 35 member D1; solute carrier family 35, member D1; UDP-galactose transporter-related 7; UDP-galactose transporter-related protein 7; UDP-GlcA/UDP-GalNAc transporter; UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; UGTREL7
100 µg
100 µg
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