LEPREL2

LEPREL2 is a gene in humans that encodes a protein called prolyl 3-hydroxylase 2 (P3H2). P3H2 belongs to the prolyl hydroxylase family of enzymes. These enzymes catalyze the formation of 3-hydroxyproline residues in proteins containing collagen-like sequences.

The LEPREL2 gene is located on chromosome 1 and is involved in collagen biosynthesis. Specifically, the P3H2 enzyme encoded by LEPREL2 hydroxylates proline residues at the 3-position in Xaa-Pro-Gly triplets within collagen molecules. This hydroxylation is crucial for the proper folding, stability, and secretion of collagen.

Mutations in the LEPREL2 gene have been associated with recessive osteogenesis imperfecta (OI), also known as brittle bone disease. Specifically, these mutations result in a deficiency or dysfunction of the P3H2 enzyme, leading to abnormal collagen formation and compromised bone structure. The severity of the OI phenotype associated with LEPREL2 mutations can vary depending on the specific mutation and its impact on enzyme activity.