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This peptide corresponds to 16 amino acids near the amino terminus of human Slc35D1.
PEP-0674 can be used as a blocking peptide with polyclonal antibody PA5-20554.
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.
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Protein Aliases: Nucleotide sugar transporter 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; UDP-galactose transporter-related 7; UDP-galactose transporter-related protein 7; UDP-GlcA/UDP-GalNAc transporter; UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter; UGTrel7
Gene Aliases: KIAA0260; SLC35D1; UGTREL7
UniProt ID: (Human) Q9NTN3
Entrez Gene ID: (Human) 23169
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