SLC35D1 Antibody – Rabbit Polyclonal

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]

SLC35D1: 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. Defects in SLC35D1 are a cause of Schneckenbecken dysplasia (SCHBCKD). Schneckenbecken dysplagia is a rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. Belongs to the TPT transporter family. SLC35D subfamily.

Protein type: Transporter; Membrane protein, multi-pass; Membrane protein, integral; Transporter, SLC family

Chromosomal Location of Human Ortholog: 1p31.3

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: UDP-glucuronic acid transmembrane transporter activity

Biological Process: UDP-glucuronic acid transport; chondroitin sulfate biosynthetic process; xenobiotic metabolic process; embryonic skeletal development; carbohydrate transport; UDP-glucuronate biosynthetic process; transmembrane transport

Disease: Schneckenbecken Dysplasia