DISEASES

Disease-gene associations mined from literature

Literature associating OSBPL5 and Lenz-Majewski hyperostotic dwarfism

OSBPL5 [ENSP00000263650]

Oxysterol-binding protein-related protein 5; Lipid transporter involved in lipid countertransport between the endoplasmic reticulum and the plasma membrane: 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. Binds phosphatidylserine and PI4P in a mutually exclusive manner . May cooperate with NPC1 to mediate the exit of cholesterol from endosomes/lysosomes . Binds 25-hydroxycholesterol and cholesterol . ECO:0000269|PubMed:21220512, ECO:0000269|PubMed:23934110,

Synonyms:  OSBPL5,  OSBPL5p,  hOSBPL5,  E9PIJ6,  E9PJE6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM