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 into the endoplasmic reticulum lumen (PubMed:11322953, PubMed:17952091). Plays a role in chondroitin sulfate biosynthesis, which is important for formation of cartilage extracellular matrix and normal skeletal development.

From NCBI Gene:

  • Schneckenbecken dysplasia

From UniProt:

Schneckenbecken dysplasia (SHNKND): A rare, lethal autosomal recessive skeletal dysplasia characterized by snail-like configuration of the hypoplastic iliac bone, short-limbed dwarfism, short ribs, and flattened, hypoplastic vertebral bodies. SHNKND is lethal in the neonatal period. [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 67,054,423 on chromosome 1 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

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