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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: KIAA0260; 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; UDP-galactose transporter-related 7; UDP-galactose transporter-related protein 7; UDP-GlcA/UDP-GalNAc transporter; UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; unnamed protein product
基因别名: C330011J09; mKIAA0260; SHNKND; UGTREL7
UniProt ID: (Human) Q9NTN3, (Mouse) A2AKQ0
Entrez Gene ID: (Human) 23169, (Mouse) 242585, (Rat) 298280