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


Reviewed May 2008

What is the official name of the CHD7 gene?

The official name of this gene is “chromodomain helicase DNA binding protein 7.”

CHD7 is the gene's official symbol. The CHD7 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 CHD7 gene?

The CHD7 gene provides instructions for making a protein called chromodomain helicase DNA binding protein 7. The CHD7 protein belongs to a family of proteins that are thought to play a role in the organization of chromatin. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The CHD7 protein most likely regulates gene activity (expression) by a process known as chromatin remodeling. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed. Studies have shown that the CHD7 gene is expressed in many fetal tissues, including the eye, inner ear, and brain cells that process smell (olfactory bulb).

How are changes in the CHD7 gene related to health conditions?

CHARGE syndrome - caused by mutations in the CHD7 gene

Mutations in the CHD7 gene are found in approximately 60 percent to 65 percent of individuals with CHARGE syndrome. At least 150 mutations have been found throughout the gene. Most mutations lead to the production of an abnormally short, nonfunctional CHD7 protein, which presumably disrupts chromatin remodeling and the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome.

Where is the CHD7 gene located?

Cytogenetic Location: 8q12.2

Molecular Location on chromosome 8: base pairs 60,678,762 to 60,868,028

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

The CHD7 gene is located on the long (q) arm of chromosome 8 at position 12.2.

The CHD7 gene is located on the long (q) arm of chromosome 8 at position 12.2.

More precisely, the CHD7 gene is located from base pair 60,678,762 to base pair 60,868,028 on chromosome 8.

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

Where can I find additional information about CHD7?

You and your healthcare professional may find the following resources about CHD7 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 CHD7 gene or gene products?

  • FLJ20357
  • FLJ20361
  • IS3
  • KIAA1416

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 CHD7?

chromatin ; chromatin remodeling ; DNA ; embryonic ; expressed ; gene ; gene expression ; helicase ; olfactory bulb ; protein ; syndrome

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: May 2008
Published: February 8, 2016