BTBD29,LZTR1(22q11.21;22q11.1-q11.2), SWNTS2, NS1, NS2. Golgiverkoston vakautus.

https://www.ncbi.nlm.nih.gov/gene/8216
Leusine Zipper like transcription regulator 1 = LZTR1

Also known as

NS2; NS10; BTBD29; LZTR-1; SWNTS2

Summary

This gene encodes a member of the BTB-kelch superfamily. Initially described as a putative transcriptional regulator based on weak homology to members of the basic leucine zipper-like family, the encoded protein subsequently has been shown to localize exclusively to the Golgi network where it may help stabilize the Gogli complex. Deletion of this gene may be associated with DiGeorge syndrome. [provided by RefSeq, Jul 2008]

Expression  Ubiquitous expression in spleen (RPKM 12.6), ovary (RPKM 12.5) and 25 other tissues See more

 

Preferred Names

leucine-zipper-like transcriptional regulator 1

Names

epididymis secretory sperm binding protein
NS2, NS10, Noonan syndrome types
SWNTS2  Schwannoma

Related articles in PubMed

1. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Johnston JJ, et al. Genet Med, 2018 Oct. PMID 29469822, Free PMC Article
2. Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. Farschtschi S, et al. Ann Neurol, 2016 Oct. PMID 27472264
3. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Smith MJ, et al. Neurology, 2015 Jan 13. PMID 25480913, Free PMC Article
4. Expanding the mutational spectrum of LZTR1 in schwannomatosis. Paganini I, et al. Eur J Hum Genet, 2015 Jul. PMID 25335493, Free PMC Article
5. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Piotrowski A, et al. Nat Genet, 2014 Feb. PMID 24362817, Free PMC Article

See all (36) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

1. Pathogenic mutations affecting either RIT1 or LZTR1 resulted in incomplete degradation of RIT1.
2. These clinical and genetic data confirm the existence of a form of Noonan syndrome that is inherited in an autosomal recessive pattern and identify biallelic mutations in LZTR1.
3. RAS regulation by LZTR1-mediated ubiquitination provides an explanation for the role of LZTR1 in human disease.
4. LZTR1 acts as a conserved regulator of RAS ubiquitination and MAPK pathway activation. Because LZTR1 disease mutations failed to revert loss-of-function phenotypes, these findings provide a molecular rationale for LZTR1 involvement in a variety of inherited and acquired human disorders.
5. LZTR1 mutation is associated with Noonan syndrome.
6. the malignancy risk in schwannomatosis is not well defined but may include an increased risk of malignant peripheral nerve sheath tumor in SMARCB1 Imaging protocols are also proposed for SMARCB1 and LZTR1 schwannomatosis and SMARCE1-related meningioma predisposition.
7. Nerve lesions and LZTR1 germline mutations in segmental schwannomatosis.
8. Data indicate that molecular analysis of leucine-zipper-like transcription regulator 1 (LZTR1) may contribute to the molecular characterization of schwannomatosis patients.
9. We show for the first time that an inherited mutation in PBRM1 predisposes to RCC.
10. Data confirm the relationship between mutations in LZTR1 and schwannomatosis. They indicate that germline mutations in LZTR1 confer an increased risk of vestibular schwannoma.