SLC35D1 solute carrier family 35 member D1
Gene ID: 23169, updated on 27-Aug-2024Gene type: protein coding
Also known as: SHNKND; UGTREL7
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC35D1
- Go to Variation Viewer for SLC35D1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. GeneReviews: Not available | |
| Schneckenbecken dysplasia | See labs |
Genomic context
- Location:
- 1p31.3
- Sequence:
- Chromosome: 1; NC_000001.11 (66972976..67054148, complement)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC35D1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC35D1 database
- Variation ViewerRelated Variants
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