Aliases for SLC35D1 Gene
- Solute Carrier Family 35 Member D1 2 3 4 5
- Solute Carrier Family 35 (UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Dual Transporter), Member D1 2 3
- Solute Carrier Family 35 (UDP-GlcA/UDP-GalNAc Transporter), Member D1 2 3
- UDP-Glucuronic Acid/UDP-N-Acetylgalactosamine Transporter 3 4
- UDP-Galactose Transporter-Related Protein 7 3 4
External Ids for SLC35D1 Gene
Previous GeneCards Identifiers for SLC35D1 Gene
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.[provided by RefSeq, Sep 2009]
GeneCards Summary for SLC35D1 Gene
SLC35D1 (Solute Carrier Family 35 Member D1) is a Protein Coding gene. Diseases associated with SLC35D1 include Schneckenbecken Dysplasia and Boomerang Dysplasia. Among its related pathways are Porphyrin and chlorophyll metabolism and Metabolism. Gene Ontology (GO) annotations related to this gene include UDP-glucuronic acid transmembrane transporter activity and pyrimidine nucleotide-sugar transmembrane transporter activity. An important paralog of this gene is SLC35D2.
UniProtKB/Swiss-Prot Summary for SLC35D1 Gene
Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm into the endoplasmic reticulum lumen (PubMed:11322953, PubMed:17952091). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development (By similarity).