Disease-gene associations mined from literature

Literature associating OSBP and familial isolated deficiency of vitamin E

OSBP [ENSP00000263847]

Oxysterol-binding protein 1; Lipid transporter involved in lipid countertransport between the Golgi complex and membranes of the endoplasmic reticulum: specifically exchanges sterol with phosphatidylinositol 4-phosphate (PI4P), delivering sterol to the Golgi in exchange for PI4P, which is degraded by the SAC1/SACM1L phosphatase in the endoplasmic reticulum. Binds cholesterol and a range of oxysterols including 25-hydroxycholesterol. Cholesterol binding promotes the formation of a complex with PP2A and a tyrosine phosphatase which dephosphorylates ERK1/2, whereas 25-hydroxycholesterol causes its disassembly. Regulates cholesterol efflux by decreasing ABCA1 stability; Belongs to the OSBP family.

Synonyms:  OSBP,  B4DR25,  OSBP-001,  OSBP-002,  OSBP-004 ...

Linkouts:  STRING  Pharos  UniProt  OMIM