基因名称(Gene Name)
SLC35D1 KIAA0260 UGTREL7
免疫原
Synthesized peptide derived from human S35D1 AA range: 91-141
特异性
This antibody detects endogenous levels of S35D1 at Human
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.72% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
其他名称
UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter (UDP-GlcA/UDP-GalNAc transporter) (Solute carrier family 35 member D1) (UDP-galactose transporter-related protein 7) (UGTrel7)
背景
Glycosylation of cellular glycoconjugates occurs in the endoplasmic reticulum (ER) and Golgi compartment, and requires transport of nucleotide sugars from the cytosol into the lumen of the ER and Golgi by specific transporters. The protein encoded by this gene resides in the ER, and transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to the ER lumen. It may participate in glucuronidation and/or chondroitin sulfate biosynthesis. Mutations in this gene are associated with Schneckenbecken dysplasia.[provided by RefSeq, Sep 2009],
功能
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.,
