OSBP2 Chromosome 22
Oxysterol binding protein 2
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What This Gene Does
The protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2013]
Gene Info
Gene Group
"Oxysterol binding proteins|Pleckstrin homology domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
22q12.2
Ensembl
ENSG00000184792
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS377386207 | Health Risk | Conflicting classifications of pathogenicity | — |