PLOD1 Gene

The official name PLOD1 gene procollagen-lysine 1, 2-oxoglutarate 5-dioxygenase 1,the Gene provides informations to produce an enzyme called lysyl hydroxylase 1,Lysyl hydroxylase is a membrane -homodimeric protein localized to the citernae of the endoplasmic reticulum.This enzyme modifies a particular amino acid called lysine, which is one of the building blocks used to make proteins. Specifically, lysyl hydroxylase 1 adds a single oxygen atom to a hydrogen atom to create a charged molecule called a hydroxyl group,The resultant hydroxylysyl groups are attachment sites for carbohydrates in collagen and thus are critical for the stability of intermolecular crosslinks,Cross-links between these molecules allow collagen to form networks of strong, slender fibrils, which are an important part of the normal structure of connective tissue.

Location

PLOD1 gene is present in human chromosome1 and it is coded from the region from 1917333 to 11958181,the cytogenetic location 1p36.3-p36.2,tHe gene size is 40849 bp with 19 exons

Disease

Mutaions in this gene causes a Ehlers-Danlos syndrome.Researchers have identified more than 20 mutations in PLOD1 gene in affected persons,These mutations cause a form of Ehlers-Danlos syndrome called the kyphoscoliosis type,The most common mutation duplicates a large portion of the gene, resulting in the production of a nonfunctional version of the lysyl hydroxylase 1 enzyme. Several other mutations introduce premature stop signals that prevent the gene from making any functional enzyme. A loss of lysyl hydroxylase 1 activity impairs cross-linking between collagen molecules. This disruption in the network of collagen fibrils weakens connective tissues, causing the signs and symptoms of Ehlers-Danlos syndrome.