The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use at an assay dependent dilution. Predicted molecular weight: 175 kDa.
機能Mediates in vitro the transfer of all common phospholipids, cholesterol and gangliosides between membranes. May play a role in regulating steroidogenesis.
組織特異性Liver, fibroblasts, and placenta.
関連疾患Defects 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.
配列類似性In the N-terminal section; belongs to the thiolase family. Contains 1 SCP2 domain.
細胞内局在Mitochondrion; 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.