Target intelligence / Profile preview

L-gulono-γ-lactone oxidase pseudogene (GULOP)

Target
GULOP
Molecular classification
Pseudogene, Enzyme (oxidoreductase, specifically aldonolactone oxidoreductase family)
01

Overview

In humans and some other primates, the *L-gulono-γ-lactone oxidase* (GULO) gene exists as a pseudogene (GULOP), meaning it is a remnant of an ancestral gene that has lost its ability to encode a functional enzyme due to mutations such as insertions, deletions, and premature stop codons[3][4][1]. In other species, the active enzyme catalyzes the terminal step in vitamin C biosynthesis, converting L-gulonolactone to ascorbic acid (vitamin C)[2]. As a result of GULOP pseudogenization, humans cannot synthesize vitamin C and must obtain it from the diet, explaining the susceptibility to scurvy when dietary vitamin C is insufficient[3][4][1]. The gene is located on chromosome 8p21.3, is approximately 32-42 kb in size, and contains several nonfunctional exons[3]. There is no evidence that GULOP expresses a protein or regulatory product in humans, and no drugs target this locus.

Other names
GULOPGULO pseudogeneL-gulonolactone oxidase pseudogenescurvy geneL-gulono-gamma-lactone oxidase pseudogene
02

Disease associations

Scurvy (via loss of endogenous vitamin C synthesis)"Other" (pseudogenization related to dietary and evolutionary changes)

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