P4HTM
Description
The P4HTM gene, provides instructions for creating prolyl 4-hydroxylase, a critical enzyme involved in the synthesis of collagen. Collagen, the most abundant protein in the human body, forms the structural framework of tissues like skin, bones, cartilage, and blood vessels. P4HTM plays a crucial role by hydroxylating proline residues within collagen molecules, a process essential for proper folding and stability. Mutations in this gene can disrupt collagen production, leading to various health problems. Understanding the intricacies of P4HTM‘s function and its role in disease pathogenesis is crucial for developing targeted therapies and improving human health.
Associated Diseases
- Ehlers-Danlos syndrome type VIIA (EDS VIIA): A connective tissue disorder characterized by joint hypermobility, skin hyperextensibility, and fragile blood vessels.
- Osteogenesis imperfecta (OI): A genetic bone disorder causing brittle bones that fracture easily.
- Epidermolysis bullosa (EB): A group of genetic skin disorders characterized by blistering and fragility of the skin.
- Kidney disease: Some mutations in P4HTM have been linked to kidney dysfunction and failure.
Did you know?
P4HTM gene mutations can cause a wide range of symptoms, highlighting the importance of collagen in maintaining human health.
