P3H4
Description
The P3H4 (prolyl 3-hydroxylase family member 4 (inactive)) is a protein-coding gene located on chromosome 17.
P3H4, along with PLOD1 and P3H3, forms a complex that catalyzes the hydroxylation of lysine residues in collagen alpha chains. This process is essential for the proper assembly and cross-linking of collagen fibrils, which are crucial for maintaining normal bone density and skin stability.
P3H4 is also known as LEPREL4, NO55, NOL55, SC65.
Associated Diseases
- breast cancer
- urinary bladder carcinoma
- hyperostosis corticalis generalisata
- melorheostosis with osteopoikilosis
- cancer
- Ehlers-Danlos syndrome, kyphoscoliotic type 1
- Melnick-Needles syndrome
