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Genetics Home Reference: your guide to understanding genetic conditions
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LITAF

Reviewed January 2010

What is the official name of the LITAF gene?

The official name of this gene is “lipopolysaccharide-induced TNF factor.”

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

What is the normal function of the LITAF gene?

The LITAF gene (sometimes referred to as SIMPLE) provides instructions for making a protein called lipopolysaccharide-induced tumor necrosis factor-alpha factor. The role of this protein is unclear, but two functions have been proposed. The LITAF protein probably plays a role in processes that fight infection and destroy unwanted cells. Specifically, this protein is thought to activate the production of an infection-fighting substance called tumor necrosis factor-alpha. Tumor necrosis factor-alpha may also participate in the destruction of cancer cells.

Another function of the LITAF protein was proposed on the basis of its location within the cell. It is found in the membrane surrounding lysosomes, the sac-like compartments in cells that are filled with enzymes to break down toxic substances, digest bacteria that invade the cell, and recycle worn-out cell components. The LITAF protein may help bring proteins and other substances into the lysosomes to be broken down.

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

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

At least eight mutations in the LITAF gene cause a form of Charcot-Marie-Tooth disease known as type 1C. Each of these mutations changes a single DNA building block (base pair), which alters the instructions for making the LITAF protein. It is unclear how these mutations lead to type 1C Charcot-Marie-Tooth disease. The abnormal LITAF protein may mistakenly degrade proteins that are critical for nerve function. Another possibility is that the altered LITAF protein cannot destroy substances that are toxic to nerve cells.

Where is the LITAF gene located?

Cytogenetic Location: 16p13.13

Molecular Location on chromosome 16: base pairs 11,547,721 to 11,587,465

The LITAF gene is located on the short (p) arm of chromosome 16 at position 13.13.

The LITAF gene is located on the short (p) arm of chromosome 16 at position 13.13.

More precisely, the LITAF gene is located from base pair 11,547,721 to base pair 11,587,465 on chromosome 16.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about LITAF?

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

  • CMT1C
  • FLJ38636
  • LITAF_HUMAN
  • LPS-induced TNF-alpha factor
  • PIG7
  • SIMPLE
  • small integral membrane protein of lysosome/late endosome
  • TP5317
  • tumor protein p53 inducible protein 7

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding LITAF?

bacteria ; base pair ; cancer ; cell ; degrade ; DNA ; gene ; infection ; LPS ; lysosome ; necrosis ; protein ; toxic ; tumor

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Bennett CL, Shirk AJ, Huynh HM, Street VA, Nelis E, Van Maldergem L, De Jonghe P, Jordanova A, Guergueltcheva V, Tournev I, Van Den Bergh P, Seeman P, Mazanec R, Prochazka T, Kremensky I, Haberlova J, Weiss MD, Timmerman V, Bird TD, Chance PF. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann Neurol. 2004 May;55(5):713-20. (http://www.ncbi.nlm.nih.gov/pubmed/15122712?dopt=Abstract)
  • Gene Review: Charcot-Marie-Tooth Neuropathy Type 1 (http://www.ncbi.nlm.nih.gov/books/NBK1205/)
  • Gerding WM, Koetting J, Epplen JT, Neusch C. Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. Neuromuscul Disord. 2009 Oct;19(10):701-3. doi: 10.1016/j.nmd.2009.05.006. Epub 2009 Jun 21. (http://www.ncbi.nlm.nih.gov/pubmed/19541485?dopt=Abstract)
  • Latour P, Gonnaud PM, Ollagnon E, Chan V, Perelman S, Stojkovic T, Stoll C, Vial C, Ziegler F, Vandenberghe A, Maire I. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J Peripher Nerv Syst. 2006 Jun;11(2):148-55. (http://www.ncbi.nlm.nih.gov/pubmed/16787513?dopt=Abstract)
  • Moriwaki Y, Begum NA, Kobayashi M, Matsumoto M, Toyoshima K, Seya T. Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1. J Biol Chem. 2001 Jun 22;276(25):23065-76. Epub 2001 Mar 26. (http://www.ncbi.nlm.nih.gov/pubmed/11274176?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9516)
  • Saifi GM, Szigeti K, Wiszniewski W, Shy ME, Krajewski K, Hausmanowa-Petrusewicz I, Kochanski A, Reeser S, Mancias P, Butler I, Lupski JR. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum Mutat. 2005 Apr;25(4):372-83. (http://www.ncbi.nlm.nih.gov/pubmed/15776429?dopt=Abstract)
  • Street VA, Bennett CL, Goldy JD, Shirk AJ, Kleopa KA, Tempel BL, Lipe HP, Scherer SS, Bird TD, Chance PF. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology. 2003 Jan 14;60(1):22-6. (http://www.ncbi.nlm.nih.gov/pubmed/12525712?dopt=Abstract)
  • Tang X, Fenton MJ, Amar S. Identification and functional characterization of a novel binding site on TNF-alpha promoter. Proc Natl Acad Sci U S A. 2003 Apr 1;100(7):4096-101. Epub 2003 Mar 24. (http://www.ncbi.nlm.nih.gov/pubmed/12655064?dopt=Abstract)
  • Young P, Suter U. The causes of Charcot-Marie-Tooth disease. Cell Mol Life Sci. 2003 Dec;60(12):2547-60. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14685682?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2010
Published: July 7, 2014