5-hydroxyisourate hydrolase pseudogene (URAHP)

In humans, 5-hydroxyisourate hydrolase pseudogene (URAHP, also known as URAH or HIU hydrolase pseudogene) refers to a gene that no longer produces a functional enzyme. In most other mammals and in many lower vertebrates and bacteria, the corresponding gene encodes an active enzyme—HIU hydrolase—which catalyzes the second step in the uric acid degradation pathway, essential for converting uric acid to allantoin[2][1][3]. The pseudogene status in humans and great apes explains the lack of allantoin production and the relatively high serum uric acid levels, predisposing these species to hyperuricemia and gout[1][2]. The functional protein—when present in other species—is a member of the transthyretin-related protein family, predominantly expressed in the liver, and is implicated in uric acid homeostasis and potentially in limiting toxic metabolites associated with urate degradation[2].

Other names

URAHPURAHHIU hydrolase pseudogeneHydroxyisourate hydrolase pseudogene