Oxysterol Binding Protein 2 (OSBP2)

Oxysterols are byproducts of cholesterol that can have cytotoxic effects on many cell types. The membrane-bound protein encoded by this gene contains a pleckstrin homology (PH) domain and an oxysterol-binding region. It binds oxysterols such as 7-ketocholesterol and may inhibit their cytotoxicity. Alternate transcriptional splice variants have been observed but have not been fully characterized. RT-PCR analysis detected expression of an OSBP2 splice variant that lacks exon 12, resulting in a protein with an aberrant C terminus after the first 692 amino acids, only in retina. In monkey retina, significant expression of OSBP2 was found in neural macula and peripheral neural retina, with little or no expression in macular or peripheral pigment epithelium choroids.