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Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.
Gene Name: | solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1 |
Family/Subfamily: | Transporter , Drug/metabolite transporter |
Synonyms: | SLC35D1, HUGTrel7, UGTREL7, KIAA0260 |
Target Sequences: | NM_015139 NP_055954.1 Q9NTN3 |
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