Molecular weight (DA)
38kD
Immunogen
Synthesized peptide derived from human S35D1 AA range: 91-141
Specificity
This antibody detects endogenous levels of S35D1 at Human
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.72% sodium azide.
Dilution rate
WB 1:500-2000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
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],
Function
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.,
Gene Name
SLC35D1 KIAA0260 UGTREL7
Other name
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)
Human protein sequence Database
Q9NTN3
Mouse protein sequence database
Rat protein sequence database
Cellular localization
Endoplasmic reticulum membrane ; Multi-pass membrane protein .
Tissue expression
Ubiquitous.
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