OSBP2
Description
The OSBP2 (oxysterol binding protein 2) is a protein-coding gene located on chromosome 22.
Oxysterol-binding protein 2 is a protein that in humans is encoded by the OSBP2 gene. Oxysterols are byproducts of cholesterol that can have cytotoxic effects on many cell types. The 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.
Binds 7-ketocholesterol.
OSBP2 is also known as HLM, ORP-4, ORP4, OSBPL1, OSBPL4.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failure 65
- spermatogenic failure 39
- spermatogenic failure, X-linked, 3
- spermatogenic failure 40
- spermatogenic failure 72
- spermatogenic failure 11
- spermatogenic failure 10
- spermatogenic failure 42
- spermatogenic failure 41
- spermatogenic failure 47
