Defective SLC35D1 causes Schneckenbecken dysplasia (SCHBCKD)

Stable Identifier
R-HSA-5579020
Type
Pathway
Species
Homo sapiens
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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
20144721 The role of nucleotide sugar transporters in development of eukaryotes

Liu, L, Xu, YX, Hirschberg, CB

Semin. Cell Dev. Biol. 2010
22527830 Developmental diseases caused by impaired nucleotide sugar transporters

Liu, L, Hirschberg, CB

Glycoconj. J. 2013
Participants
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Disease
Name Identifier Synonyms
schneckenbecken dysplasia 0050775
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