SLC35D1 gene

solute carrier family 35 member D1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

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.

From NCBI Gene:

  • Schneckenbecken dysplasia

From UniProt:

Schneckenbecken dysplasia (SCHBCKD): Rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia. [MIM:269250]

Cytogenetic Location: 1p31.3, which is the short (p) arm of chromosome 1 at position 31.3

Molecular Location: base pairs 66,999,332 to 67,054,397 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p31.3, which is the short (p) arm of chromosome 1 at position 31.3
  • UGTREL7