SLC35A1 solute carrier family 35 member A1
Gene ID: 10559, updated on 11-Apr-2024Gene type: protein coding
Also known as: CST; hCST; CDG2F; CMPST
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC35A1
- Go to Variation Viewer for SLC35A1 variants
Summary
The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| SLC35A1-congenital disorder of glycosylation MedGen: C1970344OMIM: 603585GeneReviews: Congenital Disorders of N-Linked Glycosylation and Multiple Pathway Overview | See labs |
Genomic context
- Location:
- 6q15
- Sequence:
- Chromosome: 6; NC_000006.12 (87472974..87512336)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC35A1 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
- SLC35A1 database
- Variation ViewerRelated Variants
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