Defective SLC35D1 causes SCHBCKD

Stable Identifier
R-HSA-5579020
Type
Pathway
Species
Homo sapiens
Synonyms
Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD)
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The UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter (SLC35D1) is an ER membrane-spanning protein that transports nucleotide-sugars from the cytosol into the ER lumen. SLC35D1 transports UDP-GlcUA and UDP-GalNAc, which are substrates for the synthesis of chondroitin sulfate disaccharide repeats, suggesting a role in chondroitin sulfate biosynthesis. Mutations in SLC35D1 can cause Schneckenbecken dysplasia (SCHBCKD; MIM:269250), a rare, autosomal recessive, lethal short-limbed skeletal dysplasia affecting cartilage and skeletal development (Liu et al. 2010, Liu & Hirschberg 2013).

Literature References
PubMed ID Title Journal Year
22527830 Developmental diseases caused by impaired nucleotide sugar transporters

Hirschberg, CB, Liu, L

Glycoconj. J. 2013
20144721 The role of nucleotide sugar transporters in development of eukaryotes

Xu, YX, Hirschberg, CB, Liu, L

Semin. Cell Dev. Biol. 2010
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