AKR1D1 Human, His

Aldo-Keto Reductase Family 1 Member D1 (AKR1D1) is a protein encoded by the AKR1D1 gene in humans. This enzyme plays a crucial role in the metabolism of bile acids and steroid hormones. It is part of the aldo-keto reductase superfamily, which consists of more than 40 known enzymes and proteins. The recombinant form of this protein, tagged with a histidine (His) tag, is often used in research to facilitate purification and detection.

AKR1D1 catalyzes the stereospecific NADPH-dependent reduction of the C4-C5 double bond of bile acid intermediates and steroid hormones carrying a delta (4)-3-one structure. This reaction is essential for the biosynthesis of bile acids and plays a significant role in steroid metabolism. The enzyme’s activity is crucial for maintaining the proper function of these metabolic pathways .

The AKR1D1 gene is located on chromosome 7 in humans. It has multiple transcript variants encoding different isoforms, which contribute to its diverse functions in various tissues. Deficiency in AKR1D1 can lead to hepatic dysfunction and other metabolic disorders .

The human recombinant AKR1D1 protein, tagged with a His tag, is produced using recombinant DNA technology. This involves cloning the AKR1D1 gene into an expression vector, which is then introduced into a host cell, typically Escherichia coli. The host cells express the protein, which can be purified using affinity chromatography due to the His tag. This recombinant protein is used in various biochemical assays and structural studies to understand the enzyme’s function and mechanism .

Mutations or deficiencies in the AKR1D1 gene are associated with several metabolic disorders, including bile acid synthesis defects and Alagille Syndrome. Understanding the function and regulation of AKR1D1 is crucial for developing therapeutic strategies for these conditions .

The recombinant AKR1D1 protein is widely used in research to study its role in bile acid and steroid metabolism. It is also used in drug discovery and development to screen for potential inhibitors or activators of the enzyme. The His tag facilitates the purification and detection of the protein, making it a valuable tool in biochemical and structural studies .