SLC17A5 solute carrier family 17 member 5
Gene ID: 26503, updated on 18-Sep-2024Gene type: protein coding
Also known as: SD; AST; NSD; SLD; ISSD; VEAT; SIASD; SIALIN
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC17A5
- Go to Variation Viewer for SLC17A5 variants
Summary
This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]
Associated conditions
Genomic context
- Location:
- 6q13
- Sequence:
- Chromosome: 6; NC_000006.12 (73593379..73653992, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC17A5 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
- Variation ViewerRelated Variants
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