LZTS1

Chr 8

leucine zipper tumor suppressor 1

Also known as: F37, FEZ1

NCBI Gene: 11178 ENSG00000061337 UniProt: Q9Y250 OMIM: 606551

The protein functions as a tumor suppressor that regulates cell growth by stabilizing the CDC2-cyclin B1 complex and preventing uncontrolled cell proliferation. Mutations cause esophageal squamous cell carcinoma with somatic inheritance pattern. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely to have significant functional consequences.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a tumor suppressor protein that is ubiquitously expressed in normal tissues. In uveal melanomas, expression of this protein is silenced in rapidly metastasizing and metastatic tumor cells but has normal expression in slowly metastasizing or nonmetastasizing tumor cells. This protein may have a role in cell-cycle control by interacting with the Cdk1/cyclinB1 complex. This gene is located on chromosomal region 8p22. Loss of heterozygosity (LOH) in the 8p arm is a common characteristic of many types of cancer. [provided by RefSeq, Nov 2009]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Esophageal squamous cell carcinoma, somaticMIM #133239

UniProtEsophageal cancer

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.34

LOEUF· LoF intol.

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Mechanism