UGTREL7 antibody, AI834976 antibody, C330011J09 antibody, mKIAA0260 antibody, UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter antibody, solute carrier family 35 member D1 antibody, solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1 antibody, Tc00.1047053510611.20 antibody, Tc00.1047053506793.40 antibody, SLC35D1 antibody, Slc35d1 antibody
Background
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.Synonyms: KIAA0260, Solute carrier family 35 member D1, UDP-galactose transporter-related protein 7, UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, UGTrel7