P3H2
Description
The P3H2 gene provides instructions for making prolyl 3-hydroxylase 2, an enzyme crucial for collagen synthesis. This enzyme plays a vital role in modifying procollagen, the precursor to collagen, by adding a hydroxyl group to proline residues. This modification is essential for the proper folding and stability of collagen fibers, which provide structural support to various tissues in the body. Mutations in the P3H2 gene can disrupt collagen synthesis and lead to a range of health problems.
Associated Diseases
- Ehlers-Danlos syndrome type VI (EDS VI)
- Kyphoscoliosis
- Osteogenesis imperfecta type VIII (OI VIII)
- Congenital joint contractures
- Arthritis
Did you know?
P3H2 gene mutations are linked to a rare but severe condition called Ehlers-Danlos syndrome type VI, characterized by joint hypermobility, skin fragility, and vascular problems.
