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Reviewed January 2010

What is the official name of the FGD4 gene?

The official name of this gene is “FYVE, RhoGEF and PH domain containing 4.”

FGD4 is the gene's official symbol. The FGD4 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 FGD4 gene?

The FGD4 gene provides instructions for making a protein called frabin. This protein plays an important role in the nervous system, where it helps regulate a type of cell signaling involved in myelin production. Myelin is a fatty substance that insulates nerve cells and promotes the rapid transmission of nerve impulses. The formation of a protective myelin sheath around nerve cells is called myelination. Frabin is particularly important in the myelination of the peripheral nervous system, which connects the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound.

Frabin is also believed to be involved in the organization of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move. Researchers believe that frabin plays a role in attaching the actin cytoskeleton to the cell membrane.

Does the FGD4 gene share characteristics with other genes?

The FGD4 gene belongs to a family of genes called ARHGEF (Rho guanine nucleotide exchange factors). It also belongs to a family of genes called ZFYVE (zinc fingers, FYVE-type).

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 FGD4 gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the FGD4 gene

At least five mutations in the FGD4 gene have been identified in people with Charcot-Marie-Tooth disease type 4H. These mutations change the protein's shape or result in an abnormally short, nonfunctional protein. The disruption of frabin's role in cell signaling causes abnormal myelination of the peripheral nervous system, resulting in the signs and symptoms of Charcot-Marie-Tooth disease type 4H.

Where is the FGD4 gene located?

Cytogenetic Location: 12p11.21

Molecular Location on chromosome 12: base pairs 32,399,541 to 32,646,050

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

The FGD4 gene is located on the short (p) arm of chromosome 12 at position 11.21.

The FGD4 gene is located on the short (p) arm of chromosome 12 at position 11.21.

More precisely, the FGD4 gene is located from base pair 32,399,541 to base pair 32,646,050 on chromosome 12.

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

Where can I find additional information about FGD4?

You and your healthcare professional may find the following resources about FGD4 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 FGD4 gene or gene products?

  • actin-filament binding protein frabin
  • CMT4H
  • DKFZp313E1818
  • FGD1 family, member 4
  • MGC57222
  • ZFYVE6

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 FGD4?

actin ; cell ; cell membrane ; cytoskeleton ; domain ; gene ; myelination ; myelin sheath ; nervous system ; peripheral ; peripheral nervous system ; pH ; protein ; sensory cells

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

See also Understanding Medical Terminology.

References (12 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: January 2010
Published: February 8, 2016