Reaction: Defective SLC35D1 does not transport UDP-GlcA, UDPGlcNAc
- in pathway: Defective SLC35D1 causes SCHBCKD
The UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter (SLC35D1) transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytosol into the ER lumen across the ER membrane. Defects in SLC35D1 can cause Schneckenbecken dysplasia (SCHBCKD; MIM:269250), a rare, autosomal recessive, lethal short-limbed skeletal dysplasia. Mutations that can cause SCHBCKD include K42Sfs*10, W311*, R107* and T65P (Hiraoka et al. 2007, Furuichi et al. 2009).
Reaction - small molecule participants:
UDP-GlcA [cytosol]
UDP-GlcNAc [cytosol]
Reactome.org reaction link: R-HSA-5603297
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Reaction input - small molecules:
UDP-alpha-D-glucuronate(3-)
UDP-N-acetyl-alpha-D-glucosamine(2-)
Reaction output - small molecules:
Reactome.org link: R-HSA-5603297