ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Gene ID: 8869, updated on 17-Jun-2024Gene type: protein coding
Also known as: SATI; SIAT9; SPDRS; ST3GalV; SIATGM3S; ST3Gal V
- See all available tests in GTR for this gene
- Go to complete Gene record for ST3GAL5
- Go to Variation Viewer for ST3GAL5 variants
Summary
Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type II membrane protein which catalyzes the formation of GM3 using lactosylceramide as the substrate. The encoded protein is a member of glycosyltransferase family 29 and may be localized to the Golgi apparatus. Mutation in this gene has been associated with Amish infantile epilepsy syndrome. Transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| GM3 synthase deficiency | See labs |
Genomic context
- Location:
- 2p11.2
- Sequence:
- Chromosome: 2; NC_000002.12 (85837120..85889034, complement)
- Total number of exons:
- 17
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ST3GAL5 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
- ST3GAL5 database
- Variation ViewerRelated Variants
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