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The official name of this gene is “leucine proline-enriched proteoglycan (leprecan) 1.”
LEPRE1 is the gene's official symbol. The LEPRE1 gene is also known by other names, listed below.
The LEPRE1 gene, which is also known as P3H1, provides instructions for making an enzyme called leprecan or prolyl-3 hydroxylase 1. This enzyme works with two other proteins, cartilage associated protein and cyclophilin B, as part of a complex that helps process certain forms of collagen. Collagens are proteins that provide strength, support, and the ability to stretch (elasticity) to many body tissues.
The leprecan-containing complex modifies a protein building block (amino acid) called proline in collagen molecules. This modification, which is known as proline 3-hydroxylation, appears to be critical for the normal folding and assembly of collagen. It also may be important for releasing collagen molecules into the spaces around cells (the extracellular matrix). The secretion of collagen from cells is necessary for the proper formation of connective tissues, such as bones, tendons, and cartilage, that form the body's supportive framework.
Studies suggest that leprecan has several additional functions. For example, this enzyme may play a role in interactions between certain types of cells and the extracellular matrix that surrounds them. Other research indicates that leprecan may act as a tumor suppressor, preventing cells from growing and dividing too fast or in an uncontrolled way.
At least four mutations in the LEPRE1 gene have been identified in people with a rare, severe form of osteogenesis imperfecta classified as type VIII. These mutations prevent cells from producing any functional leprecan. Without this enzyme, certain forms of collagen are not modified through proline 3-hydroxylation. The altered collagen molecules are incorrectly folded, and some abnormal collagen is secreted from cells more slowly than usual. These collagen defects weaken connective tissues, resulting in extremely slow growth and thin, brittle bones that may fracture before birth.
Cytogenetic Location: 1p34.1
Molecular Location on chromosome 1: base pairs 42,746,334 to 42,767,083
The LEPRE1 gene is located on the short (p) arm of chromosome 1 at position 34.1.
More precisely, the LEPRE1 gene is located from base pair 42,746,334 to base pair 42,767,083 on chromosome 1.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about LEPRE1 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
amino acid ; autosomal ; autosomal recessive ; basement membrane ; cartilage ; collagen ; enzyme ; extracellular ; extracellular matrix ; gene ; leucine ; osteogenesis ; proline ; protein ; proteoglycan ; recessive ; secretion ; sulfate ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.