anticorps UGTREL7, anticorps AI834976, anticorps C330011J09, anticorps mKIAA0260, anticorps UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, anticorps solute carrier family 35 member D1, anticorps solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1, anticorps Tc00.1047053510611.20, anticorps Tc00.1047053506793.40, anticorps SLC35D1, anticorps Slc35d1
Sujet
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