SIAE sialic acid acetylesterase
Gene ID: 54414, updated on 5-Mar-2024Gene type: protein coding
Also known as: LSE; AIS6; CSEC; YSG2; CSE-C
- See all available tests in GTR for this gene
- Go to complete Gene record for SIAE
- Go to Variation Viewer for SIAE variants
Summary
This gene encodes an enzyme which removes 9-O-acetylation modifications from sialic acids. Mutations in this gene are associated with susceptibility to autoimmune disease 6. Multiple transcript variants encoding different isoforms, found either in the cytosol or in the lysosome, have been found for this gene.[provided by RefSeq, Feb 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Autoimmune disease, susceptibility to, 6 | See labs |
| Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. GeneReviews: Not available | |
| Genetic determinants influencing human serum metabolome among African Americans. GeneReviews: Not available |
Genomic context
- Location:
- 11q24.2
- Sequence:
- Chromosome: 11; NC_000011.10 (124633113..124676303, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SIAE 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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