Aliases for OSBPL8 Gene
External Ids for OSBPL8 Gene
Previous GeneCards Identifiers for OSBPL8 Gene
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]
GeneCards Summary for OSBPL8 Gene
OSBPL8 (Oxysterol Binding Protein Like 8) is a Protein Coding gene. Diseases associated with OSBPL8 include Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly. Among its related pathways are Metabolism and Acyl chain remodelling of PE. Gene Ontology (GO) annotations related to this gene include cholesterol binding. An important paralog of this gene is OSBPL5.
UniProtKB/Swiss-Prot Summary for OSBPL8 Gene
Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: specifically exchanges phosphatidylserine with phosphatidylinositol 4-phosphate (PI4P), delivering phosphatidylserine to the plasma membrane in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:26206935). Binds oxysterol, 25-hydroxycholesterol and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267).