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Reviewed November 2015
What is the official name of the PLOD1 gene?
The official name of this gene is “procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1.”
PLOD1 is the gene's official symbol. The PLOD1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PLOD1 gene?
The PLOD1 gene provides instructions for making an enzyme called lysyl hydroxylase 1. This enzyme modifies an amino acid called lysine, which is one of the building blocks used to make proteins. Specifically, lysyl hydroxylase 1 converts lysine to a similar molecule, hydroxylysine, through a chemical reaction called hydroxylation. Hydroxylysine is commonly found in collagens, which are complex molecules that provide strength and support to many body tissues.
Hydroxylysine is essential for collagen molecules to form stable interactions, called cross-links, with one another in the spaces between cells. The cross-links result in the formation of very strong collagen fibers.
How are changes in the PLOD1 gene related to health conditions?
Where is the PLOD1 gene located?
Cytogenetic Location: 1p36.22
Molecular Location on chromosome 1: base pairs 11,934,667 to 11,975,542
The PLOD1 gene is located on the short (p) arm of chromosome 1 at position 36.22.
More precisely, the PLOD1 gene is located from base pair 11,934,667 to base pair 11,975,542 on chromosome 1.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PLOD1?
You and your healthcare professional may find the following resources about PLOD1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the PLOD1 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PLOD1?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.