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
LYST

LYST

Reviewed February 2008

What is the official name of the LYST gene?

The official name of this gene is “lysosomal trafficking regulator.”

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

The LYST gene (also known as CHS1) provides instructions for making a protein known as the lysosomal trafficking regulator. Researchers believe that this protein plays a role in the transport (trafficking) of materials into structures called lysosomes. Lysosomes act as recycling centers within cells. They use digestive enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. Although the lysosomal trafficking regulator protein is involved in the normal function of lysosomes, its exact role is unknown. Studies suggest that this protein may help determine the size of lysosomes and regulate their movement within cells.

Does the LYST gene share characteristics with other genes?

The LYST gene belongs to a family of genes called WDR (WD repeat domain containing).

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 LYST gene related to health conditions?

Chediak-Higashi syndrome - caused by mutations in the LYST gene

At least 30 mutations in the LYST gene have been identified in people with Chediak-Higashi syndrome. These mutations impair the normal function of the lysosomal trafficking regulator protein, which disrupts the size, structure, and function of lysosomes and related structures within cells.

LYST mutations that cause the severe, childhood form of Chediak-Higashi syndrome typically result in the production of an abnormally short, nonfunctional version of the lysosomal trafficking regulator protein. The mutations responsible for the milder, adult version of this disease usually change a single protein building block (amino acid) in the protein. In these cases, the altered protein may retain some function.

People with LYST mutations have abnormally large lysosomes and related structures in cells throughout the body. These enlarged structures interfere with normal cell functions. For example, enlarged lysosomes in certain immune system cells prevent these cells from responding appropriately to bacteria and other foreign invaders. As a result, the malfunctioning immune system cannot protect the body from severe, recurrent infections.

In pigment cells called melanocytes, cellular structures called melanosomes (which are related to lysosomes) are abnormally large. These structures produce and distribute a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is unable to contribute to skin, hair, and eye pigmentation.

Researchers believe that abnormal lysosome-like structures inside blood cells called platelets underlie the abnormal bruising and bleeding seen in people with Chediak-Higashi syndrome. Similarly, abnormal lysosomes in nerve cells probably cause the neurological problems associated with this disease.

Where is the LYST gene located?

Cytogenetic Location: 1q42.1-q42.2

Molecular Location on chromosome 1: base pairs 235,661,030 to 235,883,707

The LYST gene is located on the long (q) arm of chromosome 1 between positions 42.1 and 42.2.

The LYST gene is located on the long (q) arm of chromosome 1 between positions 42.1 and 42.2.

More precisely, the LYST gene is located from base pair 235,661,030 to base pair 235,883,707 on chromosome 1.

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

Where can I find additional information about LYST?

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

  • Beige homolog
  • Chediak-Higashi syndrome 1
  • CHS
  • CHS1
  • LYST_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 LYST?

albinism ; amino acid ; bacteria ; cell ; digestive ; gene ; immune system ; lysosome ; melanin ; melanocytes ; neurological ; pigment ; pigmentation ; platelets ; protein ; syndrome ; toxic ; vesicle

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

See also Understanding Medical Terminology.

References (8 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: February 2008
Published: September 15, 2014