CBR1

Carbonyl reductase 1, also known as CBR1, is an is_associated_with::enzyme which in humans is encoded by the CBR1 is_associated_with::gene.

Function
Carbonyl reductase is one of several monomeric, NADPH-dependent is_associated_with::oxidoreductases having wide specificity for carbonyl compounds. This enzyme is widely distributed in human tissues. Another carbonyl reductase gene, is_associated_with::CRB3, lies close to this gene on chromosome 21q. CBR1 metabolizes many toxic environmental is_associated_with::quinones and pharmacological relevant substrates such as the anticancer is_associated_with::doxorubicin.

Polymorphisms
Up-to-date two non-synonymous polymorphisms on CBR1 have been identified. The CBR1 V88I polymorphism encodes for a valine-to-isoleucin substitution at position 88 of the aminoacid chain. In vitro studies with recombinant proteins indicate that the CBR1 V88 isoform has a higher Vmax towards the substrates is_associated_with::menadione (vitamin K3) and is_associated_with::daunorubicin. Recent studies in human liver cytosols show that an untranslated polymorphism on the 3'UTR region of the CBR1 gene (rs9024) is associated with higher levels of the cardiotoxic metabolite doxorubicinol.