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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed January 2010

What is the official name of the MTMR2 gene?

The official name of this gene is “myotubularin related protein 2.”

MTMR2 is the gene's official symbol. The MTMR2 gene is also known by other names, listed below.

What is the normal function of the MTMR2 gene?

The MTMR2 gene provides instructions for making an enzyme called myotubularin related protein 2. This enzyme is a phosphatase, which means it helps remove a phosphate group (a cluster of one phosphorus atom and three oxygen atoms) from other substances. Removal of a phosphate group modifies the activity of these substances.

The MTMR2 protein modifies substances that act as chemical messengers. These messengers relay signals from receptors on the cell surface to specific compartments inside the cell, through a process called signal transduction. Signal transduction helps cells respond to their environment, for example, by dividing or maturing to take on specialized functions. The MTMR2 protein modifies chemical messengers that help regulate processes such as the transport of fats (lipids) and proteins within the cell.

Does the MTMR2 gene share characteristics with other genes?

The MTMR2 gene belongs to a family of genes called PTP (protein tyrosine phosphatases).

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 MTMR2 gene related to health conditions?

Charcot-Marie-Tooth disease - caused by mutations in the MTMR2 gene

Researchers have identified at least 10 MTMR2 gene mutations that cause a form of Charcot-Marie-Tooth disease known as type 4B1. Some of these mutations create a premature stop signal in the instructions for making the MTMR2 protein, which results in an abnormally short protein. Other mutations alter the protein's structure by changing one of the building blocks (amino acids) used to make the protein. All of these mutations probably impair the protein's ability to modify chemical messengers, which could disrupt the transport of lipids and proteins.

It is unclear how MTMR2 gene mutations lead to the characteristic features of type 4B1 Charcot-Marie-Tooth disease. Scientists suggest that specialized cells in the nervous system, called Schwann cells, are particularly vulnerable when the MTMR2 protein is impaired. Schwann cells produce myelin, a protective substance that covers nerves and promotes the rapid transmission of nerve impulses. Schwann cells use large amounts of lipids and proteins to make myelin, relying on efficient transport of these substances within cells. Disrupted transport could affect myelin production, altering the transmission of nerve impulses. A disturbance in nerve impulse transmission is a sign of type 4B1 Charcot-Marie-Tooth disease.

Where is the MTMR2 gene located?

Cytogenetic Location: 11q22

Molecular Location on chromosome 11: base pairs 95,832,880 to 95,924,207

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The MTMR2 gene is located on the long (q) arm of chromosome 11 at position 22.

The MTMR2 gene is located on the long (q) arm of chromosome 11 at position 22.

More precisely, the MTMR2 gene is located from base pair 95,832,880 to base pair 95,924,207 on chromosome 11.

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

Where can I find additional information about MTMR2?

You and your healthcare professional may find the following resources about MTMR2 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 MTMR2 gene or gene products?

  • CMT4B
  • KIAA1073

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding MTMR2?

acids ; atom ; cell ; enzyme ; gene ; nervous system ; oxygen ; phosphatase ; phosphate ; phosphorus ; protein ; Schwann cells ; sign ; signal transduction ; transduction

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


  • Berger P, Bonneick S, Willi S, Wymann M, Suter U. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1. Hum Mol Genet. 2002 Jun 15;11(13):1569-79. (
  • Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 2000 May;25(1):17-9. (
  • Houlden H, King RH, Wood NW, Thomas PK, Reilly MM. Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. Brain. 2001 May;124(Pt 5):907-15. (
  • Kabzinska D, Hausmanowa-Petrusewicz I, Kochanski A. Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance. Clin Neuropathol. 2008 Jan-Feb;27(1):1-12. Review. (
  • Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4492-7. Epub 2003 Mar 31. (
  • NCBI Gene (
  • Niemann A, Berger P, Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Neuromolecular Med. 2006;8(1-2):217-42. Review. (
  • Robinson FL, Dixon JE. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. J Biol Chem. 2005 Sep 9;280(36):31699-707. Epub 2005 Jul 5. (
  • Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. (


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