SCP2D1 Human
Description
Product Specs
Product Science Overview
SCP2 Sterol-Binding Domain Containing 1, also known as SCP2D1, is a protein encoded by the SCP2D1 gene in humans. This protein is involved in various metabolic processes, particularly those related to lipid metabolism and cholesterol transport. The recombinant form of this protein is often used in research to study its functions and potential therapeutic applications.
The SCP2D1 gene is located on chromosome 20 and encodes a protein that contains a sterol-binding domain. This domain is crucial for the protein’s ability to bind and transport sterols, which are essential components of cell membranes and precursors for steroid hormones . The SCP2D1 protein is predicted to enable sterol binding activity and is involved in phospholipid transport, positive regulation of intracellular cholesterol transport, and the steroid biosynthetic process .
The SCP2D1 protein plays a significant role in lipid metabolism. It is involved in the peroxisomal β-oxidation pathway, which is responsible for the detoxification of very long-chain and branched-chain fatty acids and the metabolism of cholesterol to form bile acids . The protein’s sterol-binding domain allows it to interact with various lipids, facilitating their transport and metabolism within the cell.
Mutations in the SCP2D1 gene can lead to various metabolic disorders. For instance, SCP2D1 deficiency has been associated with alterations in lipid metabolism, brainstem neurodegeneration, and testicular defects . Patients with SCP2D1 mutations may exhibit symptoms such as progressive brainstem neurodegeneration, cardiac dysrhythmia, muscle wasting, and azoospermia . Plasma fatty acid analysis in these patients often reveals abnormal values of medium-, long-, and very long-chain fatty acids .
The recombinant form of SCP2D1 is used in research to better understand its functions and potential therapeutic applications. Studies have shown that increasing SCP2D1 levels through pharmacological interventions may reverse some effects of SCP2D1 deficiency . For example, treatment with fenofibrate or 4-hydroxytamoxifen has been shown to increase SCP2D1 levels and normalize certain fatty acid levels in patient fibroblasts .
