Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions About   Site Map   Contact Us
 
Home A service of the U.S. National Library of Medicine®
 
 
Printer-friendly version
MYO5B

MYO5B

Reviewed July 2014

What is the official name of the MYO5B gene?

The official name of this gene is “myosin VB.”

MYO5B is the gene's official symbol. The MYO5B 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 MYO5B gene?

The MYO5B gene provides instructions for making a protein called myosin Vb. This protein is one of a group of proteins with similar structures called myosins, which are involved in cell movement and the transport of materials within and between cells. Myosin Vb helps to determine the position of various components within cells (cell polarity). Myosin Vb also plays a role in moving components from the cell membrane to the interior of the cell for recycling.

Does the MYO5B gene share characteristics with other genes?

The MYO5B gene belongs to a family of genes called myosins (myosins).

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 MYO5B gene related to health conditions?

microvillus inclusion disease - caused by mutations in the MYO5B gene

More than 40 mutations in the MYO5B gene have been found to cause microvillus inclusion disease. This condition is characterized by chronic, life-threatening diarrhea beginning in infancy. The MYO5B gene mutations that cause this condition result in a decrease or absence of myosin Vb function. In cells that line the small intestine (enterocytes), a lack of myosin Vb function changes the cell polarity. As a result, enterocytes cannot properly form structures called microvilli, which normally project like small fingers from the surface of the cells and absorb nutrients and fluids from food as it passes through the intestine. Inside affected enterocytes, small clumps of abnormal microvilli mix with misplaced digestive proteins to form microvillus inclusions, which contribute to the dysfunction of enterocytes. Disorganized enterocytes with poorly formed microvilli reduce the intestine's ability to take in nutrients and fluids. The inability to absorb nutrients and fluids during digestion leads to severe diarrhea, malnutrition, and dehydration in individuals with microvillus inclusion disease.

Where is the MYO5B gene located?

Cytogenetic Location: 18q21

Molecular Location on chromosome 18: base pairs 49,822,785 to 50,195,080

The MYO5B gene is located on the long (q) arm of chromosome 18 at position 21.

The MYO5B gene is located on the long (q) arm of chromosome 18 at position 21.

More precisely, the MYO5B gene is located from base pair 49,822,785 to base pair 50,195,080 on chromosome 18.

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

Where can I find additional information about MYO5B?

You and your healthcare professional may find the following resources about MYO5B 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 MYO5B gene or gene products?

  • KIAA1119
  • MYO5B variant protein
  • myosin-Vb
  • unconventional myosin-Vb

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 MYO5B?

brush border ; cell ; cell membrane ; chronic ; dehydration ; digestion ; digestive ; gene ; intestine ; microvilli ; microvillus ; myosin ; protein

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

See also Understanding Medical Terminology.

References (5 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: July 2014
Published: September 15, 2014