The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Application notesELISA: Use at an assay dependent dilution.
IHC-P: Use at an assay dependent dilution.
WB: 1/100 - 1/500. Predicted molecular weight: 175 kDa.
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
FunctionMediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis.
Tissue specificityLiver, fibroblasts, and placenta.
Involvement in diseaseDefects in SCP2 are a cause of leukoencephalopathy with dystonia and motor neuropathy (LDMN) [MIM:613724]; also known as sterol carrier protein 2 deficiency. LDMN is a syndrome characterized by leukoencephalopathy, dystonic head tremor, spasmodic torticollis and reduced tendon reflexes in lower extremities. Additional features include hyposmia, pathologic saccadic eye movements, a slight hypoacusis, accumulation of branched-chain pristanic acid in plasma, and the presence of abnormal bile alcohol glucuronides in urine.
Sequence similaritiesIn the N-terminal section; belongs to the thiolase family. Contains 1 SCP2 domain.
Cellular localizationMitochondrion; Cytoplasm. Mitochondrion. Cytoplasmic in the liver and also associated with mitochondria especially in steroidogenic tissues and Peroxisome. Interaction with PEX5 is essential for peroxisomal import.