SDR16C5 Human
Description
Product Specs
Product Science Overview
Short Chain Dehydrogenase/Reductase Family 16C, Member 5 (SDR16C5), also known as Retinal Short-Chain Dehydrogenase Reductase 2 (RetSDR2), is a protein encoded by the SDR16C5 gene. This gene belongs to the short-chain alcohol dehydrogenase/reductase (SDR) superfamily, which is characterized by its role in the oxidation and reduction of various substrates, including alcohols, steroids, and retinoids .
SDR16C5 is primarily involved in the oxidation of retinol to retinaldehyde, a crucial step in the biosynthesis of retinoic acid. Retinoic acid is an essential signaling molecule that regulates gene expression during embryonic development, cell differentiation, and homeostasis . The enzyme exhibits a strong preference for NAD+/NADH as cofactors and is active in both oxidative and reductive directions .
The SDR16C5 protein is associated with the endoplasmic reticulum and is predicted to contain three transmembrane helices, indicating that it is an integral membrane protein . This structural feature is essential for its function in the cellular environment, allowing it to interact with its substrates and cofactors effectively.
The expression of the SDR16C5 gene is regulated by various factors, including retinoic acid itself. This feedback mechanism ensures that the levels of retinoic acid are tightly controlled within the cell. Additionally, alternative splicing of the SDR16C5 gene results in multiple transcript variants, which may have distinct functions or regulatory properties .
Mutations or dysregulation of the SDR16C5 gene have been associated with several diseases, including Cardiomyopathy, Familial Hypertrophic, and Borjeson-Forssman-Lehmann Syndrome . Understanding the function and regulation of SDR16C5 is crucial for developing therapeutic strategies for these conditions.
