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Normal Function
The LZTR1 gene provides instructions for making a protein whose exact function is unknown. The LZTR1 protein is made in cells throughout the body. Within cells, it is found in the Golgi apparatus, which is a structure in which newly produced proteins are modified. Studies suggest that the LZTR1 protein may help stabilize this structure. Researchers suspect that this protein may also be associated with the CUL3 ubiquitin ligase complex, which is part of the cell machinery that breaks down (degrades) unneeded proteins.
Based on its role in several tumor types, the LZTR1 protein is thought to act as a tumor suppressor. Tumor suppressors are proteins that keep cells from growing and dividing too rapidly or in an uncontrolled way.
Health Conditions Related to Genetic Changes
Schwannomatosis
More than 50 different mutations in the LZTR1 gene have been found in people with schwannomatosis, a disorder characterized by multiple noncancerous (benign) tumors called schwannomas that grow on nerves. This type of tumor arises from Schwann cells, which are specialized cells that normally form an insulating layer around the nerve.
LZTR1 gene mutations associated with schwannomatosis lead to production of an altered LZTR1 protein that is less able to control cell growth and division, which allows tumors to develop. It is unknown why these gene mutations are predominantly associated with schwannomas, instead of other types of tumor, in people with schwannomatosis.
It appears that mutations in the LZTR1 gene alone are not enough to trigger the development of schwannomas. Additional genetic changes (somatic mutations) that are acquired during a person's lifetime and are present only in certain cells may also be required for schwannomas to form.
Some people who have a mutation in the LZTR1 gene never develop tumors, which is a situation known as reduced penetrance.
More About This Health ConditionNoonan syndrome
MedlinePlus Genetics provides information about Noonan syndrome
More About This Health ConditionCancers
Mutations in the LZTR1 gene have also been found in a type of cancerous (malignant) brain tumor called glioblastoma. These mutations are classified as somatic and are present only in the cells that give rise to the tumor. Scientists believe that somatic changes in the LZTR1 gene, or a loss of this gene, are among the factors that allow certain brain cells to grow and divide uncontrollably to form a tumor.
Other Names for This Gene
- BTBD29
- leucine-zipper-like transcriptional regulator 1
- LZTR-1
- NS10
- SWNTS2
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Frattini V, Trifonov V, Chan JM, Castano A, Lia M, Abate F, Keir ST, Ji AX, Zoppoli P, Niola F, Danussi C, Dolgalev I, Porrati P, Pellegatta S, Heguy A, Gupta G, Pisapia DJ, Canoll P, Bruce JN, McLendon RE, Yan H, Aldape K, Finocchiaro G, Mikkelsen T, Prive GG, Bigner DD, Lasorella A, Rabadan R, Iavarone A. The integrated landscape of driver genomic alterations in glioblastoma. Nat Genet. 2013 Oct;45(10):1141-9. doi: 10.1038/ng.2734. Epub 2013 Aug 5. Citation on PubMed or Free article on PubMed Central
- Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L. Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet. 2015 Jul;23(7):963-8. doi: 10.1038/ejhg.2014.220. Epub 2014 Oct 22. Citation on PubMed or Free article on PubMed Central
- Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22. Citation on PubMed or Free article on PubMed Central
- Smith MJ, Isidor B, Beetz C, Williams SG, Bhaskar SS, Richer W, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Fryer A, Rustad CF, Mills SJ, Samii A, du Plessis D, Halliday D, Barbarot S, Bourdeaut F, Newman WG, Evans DG. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology. 2015 Jan 13;84(2):141-7. doi: 10.1212/WNL.0000000000001129. Epub 2014 Dec 5. Citation on PubMed or Free article on PubMed Central
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