UDP-GlcA / UDP-GalNAc transporter
| UDP-GlcA / UDP-GalNAc transporter | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 355 amino acids | |
| Identifier | ||
| Gene name | SLC34D1 | |
| External IDs | ||
| Transporter classification | ||
| TCDB | 2.A.7.15.4 | |
| Occurrence | ||
| Parent taxon | multicellular animals | |
The UDP-GlcA / UDP-GalNAc transporter (UGTREL7, SLC35D1) is a protein in the membrane of the endoplasmic reticulum of animal cells that catalyzes the transport of UDP-glucuronate and UDP-N-acetylgalactosamine into the ER . This transport is essential for the development of cartilage already during embryonic development. Mutations in SLC35D1 - gene are the cause of the rare snails pelvic dysplasia , a hereditary lethal developmental disorder.
Individual evidence
- ↑ Homologues at OMA
- ↑ UniProt Q9NTN3
- ↑ Hiraoka S, Furuichi T, Nishimura G, et al. : Nucleotide-sugar transporter SLC35D1 is critical to chondroitin sulfate synthesis in cartilage and skeletal development in mouse and human . In: Nat. Med. . 13, No. 11, November 2007, pp. 1363-7. doi : 10.1038 / nm1655 . PMID 17952091 .
Web links
- D'Eustachio / reactome: UDP-glucuronate transport from the cytosol to ER lumen
- OrphaNet: snail basin dysplasia