disease:Defects in SLC35D1 are a cause of Schneckenbecken dysplasia [MIM:269250]. Schneckenbecken dysplagia is a rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia.,function:Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. May participate in glucuronidation and/or chondroitin sulfate biosynthesis.,online information:GlycoGene database,similarity:Belongs to the TPT transporter family. SLC35D subfamily.,tissue specificity:Ubiquitous.,
Endoplasmic reticulum membrane ; Multi-pass membrane protein .
Ubiquitous.
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