OSBPL9
Description
The OSBPL9 (oxysterol binding protein like 9) is a protein-coding gene located on chromosome 1.
OSBPL9 encodes a protein belonging to the oxysterol-binding protein (OSBP) family, which are intracellular lipid receptors. These proteins often contain an N-terminal pleckstrin homology domain and a conserved C-terminal OSBP-like sterol-binding domain, though some only have the sterol-binding domain. OSBPL9 acts as a cholesterol transfer protein, influencing Golgi structure and function. Multiple transcript variants, encoding distinct isoforms, have been identified. Related pseudogenes have been found on chromosomes 3, 11 and 12.
OSBPL9 is also known as ORP-9, ORP9.
Associated Diseases
- cerebral infarction
- Adams-Oliver syndrome
- Alzheimer disease
- type 2 diabetes mellitus
- progressive supranuclear palsy
- in situ carcinoma