| Entrez Gene ID | 114882 |
|---|---|
| Official Gene Symbol | OSBPL8 (GeneCards) |
| Full name | oxysterol binding protein like 8 |
| Location | 12q21.2 |
| Other ids | Vega : OTTHUMG00000169876 MIM : 606736 HGNC : HGNC:16396 Ensembl : ENSG00000091039 |
| Other names | ORP8, MST120, OSBP10, MSTP120 |
| Summary | This gene encodes a member of a family of proteins containing an N-terminal pleckstrin homology domain and a highly conserved C-terminal oxysterol-binding protein-like sterol-binding domain. It binds mutliple lipid-containing molecules, including phosphatidylserine, phosphatidylinositol 4-phosphate (PI4P) and oxysterol, and promotes their exchange between the endoplasmic reticulum and the plasma membrane. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016] |
Found 3 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 16412 | 114882 | OSBPL8 | 12 | 77086158 | 77086158 | Asymptomatic | HiSeq X Ten |
| 16694 | 114882 | OSBPL8 | 12 | 76941498 | 76941498 | Asymptomatic | HiSeq X Ten |
| 16959 | 114882 | OSBPL8 | 12 | 76833615 | 76833615 | Cockayne syndrome | HiSeq X Ten |