SLC35D1

Chr 1

solute carrier family 35 member D1

Also known as: SHNKND, UGTREL7

NCBI Gene: 23169 ENSG00000116704 UniProt: Q9NTN3

This protein functions as an antiporter that transports UDP-sugars (including UDP-GlcNAc, UDP-GalNAc, and UDP-GlcA) across the endoplasmic reticulum membrane, providing sugar donors essential for glycoprotein synthesis and chondroitin sulfate biosynthesis. Mutations cause Schneckenbecken dysplasia, a severe skeletal dysplasia affecting cartilage and bone development, with autosomal recessive inheritance. The gene shows tolerance to loss-of-function variants (low pLI), consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSchneckenbecken dysplasia

Clinical highlights

Gene-disease validity (ClinGen)

schneckenbecken dysplasia · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.78

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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