AKR1B1

Description

The AKR1B1 (aldo-keto reductase family 1 member B) is a protein-coding gene located on chromosome 7.

AKR1B1, also known as aldose reductase, is a human gene that encodes the enzyme aldose reductase. This enzyme, dependent on NADPH, catalyzes the reduction of various aldehydes and ketones into their corresponding alcohols. AKR1B1's involvement in oxidative stress diseases, cell signal transduction, and cell proliferation makes it a potential therapeutic target. The AKR1B1 gene resides on chromosome 7q33 and consists of 10 exons. It has several putative pseudogenes, with one confirmed on chromosome 3. The AKR1B1 protein comprises 316 amino acid residues and has a molecular weight of 35853Da. Unlike traditional dinucleotide binding folds, its NADPH binding differs from other nucleotide adenine dinucleotide-dependent enzymes. The active site of human aldose reductase is relatively hydrophobic, with seven aromatic and four non-polar residues. AKR1B1 is widely expressed in human organs, including the kidney, lens, retina, nerve, heart, placenta, brain, skeletal muscle, testis, blood vessels, lung, and liver.

AKR1B1 catalyzes the reduction of a wide range of carbonyl-containing compounds to their corresponding alcohols using NADPH. This includes endogenous metabolites like aromatic and aliphatic aldehydes, ketones, monosaccharides, bile acids, and xenobiotics. It plays a key role in the polyol pathway, converting glucose to sorbitol during hyperglycemia. AKR1B1 also reduces steroids, their derivatives, and prostaglandins. It exhibits low activity towards all-trans-retinal, 9-cis-retinal, and 13-cis-retinal. Additionally, AKR1B1 reduces various phospholipid aldehydes, such as POVPC, generated from the oxidation of phosphotidylcholine and phosphatdylethanolamides. It contributes to the detoxification of dietary and lipid-derived unsaturated carbonyls, like crotonaldehyde, 4-hydroxynonenal, trans-2-hexenal, trans-2,4-hexadienal, and their glutathione-conjugates carbonyls.

AKR1B1 is also known as ADR, ALDR1, ALR2, AR.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing