OSBPL8
Description
The OSBPL8 (oxysterol binding protein like 8) is a protein-coding gene located on chromosome 12.
OSBPL8 is a gene that encodes a member of the oxysterol-binding protein (OSBP) family, a group of intravenous lipid receptors. Like most members, the encoded protein contains an N-terminal pleckstrin homology domain and a highly conserved C-terminal OSBP-like sterol-binding domain. Two transcript variants encoding different isoforms have been found for this gene.
OSBPL8 is a lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane. It 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. OSBPL8 binds phosphatidylserine and PI4P in a mutually exclusive manner (PubMed:26206935). It also binds oxysterol, 25-hydroxycholesterol, and cholesterol (PubMed:17428193, PubMed:17991739, PubMed:21698267).
OSBPL8 is also known as MST120, MSTP120, ORP8, OSBP10.
Associated Diseases
- hypertriglyceridemia 2
- hypoalphalipoproteinemia, primary, 2, intermediate
- cholesterol-ester transfer protein deficiency
- plasma fibronectin deficiency
- hyperlipidemia due to hepatic triglyceride lipase deficiency
- homozygous familial hypercholesterolemia
- hypoalphalipoproteinemia, primary, 1
- thyroid hormone metabolism, abnormal, 2
- sitosterolemia
- familial apolipoprotein C-II deficiency
