OSBP Chromosome 11
Oxysterol binding protein
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What This Gene Does
Oxysterol binding protein is an intracellular protein that is believed to transport sterols from lysosomes to the nucleus where the sterol down-regulates the genes for the LDL receptor, HMG-CoA reductase, and HMG synthetase [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Oxysterol binding proteins|Pleckstrin homology domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
11q12.1
Ensembl
ENSG00000110048
Associated Conditions (1)
Short stature
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1565117343 | Health Risk | Pathogenic | Short stature, Short stature |