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FIG4

FIG4

Reviewed January 2010

What is the official name of the FIG4 gene?

The official name of this gene is “FIG4 phosphoinositide 5-phosphatase.”

FIG4 is the gene's official symbol. The FIG4 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 FIG4 gene?

The FIG4 gene provides instructions for making a protein called Fig4, whose function is not well understood. Researchers believe that the Fig4 protein plays a role in regulating a compound called phosphatidylinositol-3,5-bisphosphate, or PtdIns(3,5)P(2). This compound is involved in the movement of small sac-like structures called vesicles that transport certain substances within cells (vesicle trafficking). The Fig4 protein also seems to help in the survival of nerve cells (neurons).

How are changes in the FIG4 gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the FIG4 gene

At least five mutations in the FIG4 gene have been identified in individuals with Charcot-Marie-Tooth disease type 4J. One of these mutations replaces the protein building block (amino acid) isoleucine with the amino acid threonine at position 41 (written as Ile41Thr or I41T). This mutation has been identified in one copy of the FIG4 gene in everyone with Charcot-Marie-Tooth disease type 4J. In addition, each individual has another mutation in the other copy of their FIG4 gene. These mutations change single amino acids in the protein sequence or result in an abnormally short, non-functional protein. Researchers are working to determine how mutations in the FIG4 gene lead to the specific signs and symptoms of Charcot-Marie-Tooth disease type 4J.

Genetics Home Reference provides information about amyotrophic lateral sclerosis, which is also associated with changes in the FIG4 gene.

Where is the FIG4 gene located?

Cytogenetic Location: 6q21

Molecular Location on chromosome 6: base pairs 109,691,220 to 109,825,430

The FIG4 gene is located on the long (q) arm of chromosome 6 at position 21.

The FIG4 gene is located on the long (q) arm of chromosome 6 at position 21.

More precisely, the FIG4 gene is located from base pair 109,691,220 to base pair 109,825,430 on chromosome 6.

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

Where can I find additional information about FIG4?

You and your healthcare professional may find the following resources about FIG4 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 FIG4 gene or gene products?

  • ALS11
  • CMT4J
  • dJ249I4.1
  • FIG4 homolog, SAC1 lipid phosphatase domain containing (S. cerevisiae)
  • FIG4 homolog (S. cerevisiae)
  • hSac3
  • KIAA0274
  • RP1-249I4.1
  • SAC3
  • SAC3_HUMAN
  • Sac domain-containing inositol phosphatase 3

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 FIG4?

acids ; amino acid ; compound ; domain ; gene ; isoleucine ; lipid ; mutation ; phosphatase ; protein ; protein sequence ; sclerosis ; threonine ; 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: January 2010
Published: October 9, 2014