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Reviewed November 2007

What is the official name of the P3H1 gene?

The official name of this gene is “prolyl 3-hydroxylase 1.”

P3H1 is the gene's official symbol. The P3H1 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 P3H1 gene?

The P3H1 gene provides instructions for making an enzyme called prolyl-3 hydroxylase 1 (sometimes known as leprecan). 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 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 prolyl-3 hydroxylase 1 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 prolyl-3 hydroxylase 1 may act as a tumor suppressor, preventing cells from growing and dividing too fast or in an uncontrolled way.

How are changes in the P3H1 gene related to health conditions?

osteogenesis imperfecta - caused by mutations in the P3H1 gene

At least four mutations in the P3H1 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 prolyl-3 hydroxylase 1. 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.

Where is the P3H1 gene located?

Cytogenetic Location: 1p34.1

Molecular Location on chromosome 1: base pairs 42,746,335 to 42,767,084

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The P3H1 gene is located on the short (p) arm of chromosome 1 at position 34.1.

The P3H1 gene is located on the short (p) arm of chromosome 1 at position 34.1.

More precisely, the P3H1 gene is located from base pair 42,746,335 to base pair 42,767,084 on chromosome 1.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about P3H1?

You and your healthcare professional may find the following resources about P3H1 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 P3H1 gene or gene products?

  • GROS1
  • growth suppressor 1
  • Leucine- and proline-enriched proteoglycan 1
  • MGC117314
  • P3H1_HUMAN

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 P3H1?

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.

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.

Reviewed: November 2007
Published: February 8, 2016