PLOD1 : procollagen-lysine,2-oxoglutarate 5-dioxygenase 1
Description
The PLOD1 (procollagen-lysine,2-oxoglutarate 5-dioxygenase 1) is a protein-coding gene located on chromosome 1.
The PLOD1 gene provides instructions for creating an enzyme called lysyl hydroxylase 1. This enzyme modifies lysine, a building block for proteins, by converting it into hydroxylysine through a process called hydroxylation. Hydroxylysine is essential for collagen molecules to form stable cross-links, which contribute to the strength and support of various body tissues.
PLOD1 is also known as EDS6, EDSKCL1, LH, LH1, LLH, PLOD.
Associated Diseases
- Ehlers-Danlos syndrome, kyphoscoliotic type, 1
- Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
- Ehlers-Danlos syndrome
