Fumarylacetoacetate hydrolase domain-containing protein 2B (FAHD2B)

Fumarylacetoacetate hydrolase domain-containing protein 2B (FAHD2B) is a mitochondrial enzyme of the fumarylacetoacetate hydrolase superfamily, possessing oxaloacetate tautomerase activity[1]. FAHD2B catalyzes the conversion of the enol form of oxaloacetate (a potent inhibitor of the mitochondrial TCA cycle enzyme succinate dehydrogenase) into the physiological keto form, thus relieving inhibition and facilitating efficient aerobic respiration[1]. FAHD2B is primarily localized to mitochondria, with a closely related paralog, FAHD2A, and other family members (such as FAHD1) which are better characterized[3][1]. Known associations include genetic links to Hermansky-Pudlak syndrome 5 and autism spectrum disorder, but there is currently no evidence supporting its role as a drug target or validated biomarker in therapeutic contexts[1][3][4].\n\nKey details:\n- FAHD2B is not currently considered a drug target, receptor, or transporter, and lacks validated drug interactions or mechanisms of pharmacological action.\n- It is best categorized as a mitochondrial metabolic enzyme involved in minor metabolite repair and the maintenance of TCA cycle function[1][4].

Other names

FAHD2BOxaloacetate tautomerase FAHD2B, mitochondrialDKFZp434N062Fumarylacetoacetate hydrolase domain-containing protein 2Boxaloacetate tautomerase FAHD2B, mitochondrial