SQLE squalene epoxidase
Gene ID: 6713, updated on 19-Jun-2024Gene type: protein coding
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- Go to complete Gene record for SQLE
- Go to Variation Viewer for SQLE variants
Summary
Enables FAD binding activity and squalene monooxygenase activity. Involved in lipid droplet formation; regulation of cell population proliferation; and sterol biosynthetic process. Located in intracellular membrane-bounded organelle. Is integral component of membrane. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis. GeneReviews: Not available |
Genomic context
- Location:
- 8q24.13
- Sequence:
- Chromosome: 8; NC_000008.11 (124998505..125022283)
- Total number of exons:
- 11
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SQLE variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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