OSBPL6 oxysterol binding protein like 6
Gene ID: 114880, updated on 17-Jun-2024Gene type: protein coding
Also known as: ORP6
- See all available tests in GTR for this gene
- Go to complete Gene record for OSBPL6
- Go to Variation Viewer for OSBPL6 variants
Summary
This gene encodes a member of the oxysterol-binding protein (OSBP) family, a group of intracellular lipid receptors. Most members contain an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genetic variants associated with breast size also influence breast cancer risk. GeneReviews: Not available | |
| Impact of ancestry and common genetic variants on QT interval in African Americans. GeneReviews: Not available |
Genomic context
- Location:
- 2q31.2
- Sequence:
- Chromosome: 2; NC_000002.12 (178193774..178402893)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for OSBPL6 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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