GUCA2B

GUCA2B is a human gene that encodes the corneal specific alpha-guanidinopropionate dioxygenase enzyme. This enzyme plays a crucial role in the biosynthesis of the nitrogenous compound L-2-amino-4-iminobutyrate.

The human GUCA2B gene is located on chromosome 4 and is composed of 8 exons. It is expressed exclusively in the cornea, with the highest level of expression observed in young adult individuals. The gene is involved in various physiological and pathological processes, including the suppression of myelinization in the corneal epithelium, which is thought to be essential for the maintenance of corneal transparency.

Defects or mutations in the GUCA2B gene have been linked to several diseases. For example, a mutation in the gene has been identified in congenital hereditary corneal endothelial dystrophy (CHCED), a condition characterized by corneal opacification and vision loss. Additionally, studies have shown that varying levels of GUCA2B expression may be correlated with certain characteristics of the cornea, including its transparency and curvature.

The physiological functions of the GUCA2B gene and its enzyme product have been extensively studied using a combination of biochemical assays, mouse knockouts, and cell culture experiments. These studies have shed light on the mechanisms by which the enzyme contributes to the biosynthesis of L-2-amino-4-iminobutyrate and highlights the potential for its involvement in various ocular disorders. Further research is needed to elucidate the full scope of its functions and to explore its potential as a therapeutic target.