viernes, 1 de mayo de 2015

HOXB13 - homeobox B13 - Genetics Home Reference

HOXB13 - homeobox B13 - Genetics Home Reference

Genetics Home Reference: your guide to understanding genetic conditions


What is the official name of the HOXB13 gene?

The official name of this gene is “homeobox B13.”
HOXB13 is the gene's official symbol. The HOXB13 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 HOXB13 gene?

The HOXB13 gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the protein produced from the HOXB13 gene is called a transcription factor. The HOXB13 protein is part of a large group of transcription factors called the homeobox protein family. The HOXB13 protein is thought to play a role in the development and maintenance of the skin. It also acts as a tumor suppressor, which means that it keeps cells from growing and dividing too fast or in an uncontrolled way.
The HOXB13 protein has a characteristic homeobox region called the homeodomain, which binds to DNA, and two other regions called MEIS interacting domains. The MEIS interacting domains are thought to help regulate the activity of the HOXB13 protein by controlling the binding of the homeodomain with DNA.

Does the HOXB13 gene share characteristics with other genes?

The HOXB13 gene belongs to a family of genes called homeobox (homeoboxes).
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 HOXB13 gene related to health conditions?

prostate cancer - increased risk from variations of the HOXB13 gene
At least two mutations in the HOXB13 gene have been associated with an increased risk of prostate cancer; the disease may also be more aggressive in affected men with a HOXB13mutation. These mutations are present in every cell of the body and can be passed from one generation to the next. As a result, they are associated with cancers that cluster in families. However, not everyone who inherits a mutation in the HOXB13 gene will ultimately develop prostate cancer. Other genetic, environmental, and lifestyle factors also contribute to a person's cancer risk.
The HOXB13 gene mutations that are associated with prostate cancer alter the MEIS interacting domains of the HOXB13 protein. Researchers suggest that the changes may impair the ability of these domains to regulate the HOXB13 protein's interactions with DNA. As a result, the protein's tumor suppressor function is impaired, resulting in the uncontrolled cell proliferation that can lead to prostate cancer.

Where is the HOXB13 gene located?

Cytogenetic Location: 17q21.2
Molecular Location on chromosome 17: base pairs 48,724,762 to 48,728,748
The HOXB13 gene is located on the long (q) arm of chromosome 17 at position 21.2.
The HOXB13 gene is located on the long (q) arm of chromosome 17 at position 21.2.
More precisely, the HOXB13 gene is located from base pair 48,724,762 to base pair 48,728,748 on chromosome 17.

Where can I find additional information about HOXB13?

You and your healthcare professional may find the following resources about HOXB13 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 HOXB13 gene or gene products?

  • homeobox protein Hox-B13
  • PSGD

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 HOXB13?

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
References (7 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.

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