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Reviewed June 2011
What is the official name of the HTRA1 gene?
The official name of this gene is “HtrA serine peptidase 1.”
HTRA1 is the gene's official symbol. The HTRA1 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 HTRA1 gene?
The HTRA1 gene provides instructions for making a protein that is found in many of the body's organs and tissues. This protein is a type of enzyme called a serine protease, which has an active center that cuts (cleaves) other proteins into smaller pieces. The HTRA1 enzyme helps break down many other kinds of proteins in the space surrounding cells (the extracellular matrix).
The HTRA1 enzyme also attaches (binds) to proteins in the transforming growth factor-beta (TGF-β) family and slows down (inhibits) their ability to send chemical signals. TGF-β proteins normally help control many critical cell functions, including the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). TGF-β signaling also plays an important role in the formation of new blood vessels (angiogenesis).
Researchers have proposed several additional functions for the HTRA1 enzyme. It may play a role in the stabilization of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (cytoskeleton). Additionally, the HTRA1 enzyme may be involved in depositing minerals, such as calcium and phosphorus, in developing bone (mineralization). Studies have also suggested that the HTRA1 enzyme acts as a tumor suppressor, a protein that helps prevent the development of cancerous tumors by keeping cells from growing and dividing in an uncontrolled way.
Does the HTRA1 gene share characteristics with other genes?
The HTRA1 gene belongs to a family of genes called PRSS (serine peptidases).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the HTRA1 gene related to health conditions?
Where is the HTRA1 gene located?
Cytogenetic Location: 10q26.3
Molecular Location on chromosome 10: base pairs 124,221,040 to 124,274,423
The HTRA1 gene is located on the long (q) arm of chromosome 10 at position 26.3.
More precisely, the HTRA1 gene is located from base pair 124,221,040 to base pair 124,274,423 on chromosome 10.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about HTRA1?
You and your healthcare professional may find the following resources about HTRA1 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 HTRA1 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 HTRA1?
alopecia ; angiogenesis ; apoptosis ; arteriopathy ; autosomal ; autosomal recessive ; calcium ; cancer ; carcinoma ; cell ; chemotherapy ; chromosome ; cytoskeleton ; dementia ; differentiation ; endometrial ; enzyme ; extracellular ; extracellular matrix ; gene ; growth factor ; hepatocellular carcinoma ; leukoencephalopathy ; liver cancer ; macular degeneration ; melanoma ; metastasize ; ovarian ; phosphorus ; polymorphism ; progression ; proliferation ; promoter ; promoter region ; protease ; protein ; recessive ; serine ; subcortical ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (11 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.