The DHRS4 gene is located on chromosome 14q11.2 and encodes a protein that is 278 amino acids long . The protein is expressed in various tissues and is involved in several metabolic pathways, including retinoic acid signaling and peroxisomal lipid metabolism . The gene cluster also includes a paralog, DHRS4L2, which shares similar functions .
DHRS4 is an NADPH-dependent oxidoreductase, meaning it uses NADPH as a cofactor to catalyze the reduction of its substrates . The enzyme is particularly efficient in reducing all-trans-retinal and 9-cis retinal, which are forms of vitamin A . It can also catalyze the oxidation of all-trans-retinol, although with much lower efficiency . This activity is crucial for maintaining the balance of retinoids in the body, which are essential for vision, growth, and cellular differentiation.
Recombinant DHRS4 protein is widely used in biochemical research to study its enzymatic properties and potential therapeutic applications. The recombinant form is typically expressed in Escherichia coli and purified to high levels of purity for use in various assays, including SDS-PAGE and mass spectrometry .
Alterations in DHRS4 expression or function can have significant implications for human health. For instance, dysregulation of retinoid metabolism can lead to vision problems, skin disorders, and impaired immune function. Therefore, understanding the role of DHRS4 in these processes is essential for developing targeted therapies.