LZTS1

Chr 8

leucine zipper tumor suppressor 1

Also known as: F37, FEZ1

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]

Primary Disease Associations & Inheritance

Esophageal squamous cell carcinoma, somaticMIM #133239
UniProtEsophageal cancer
0
Active trials
5
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.34
LOEUF· LoF intol.
Mechanism
Clinical SummaryLZTS1
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.95). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.34LOEUF
pLI 0.955
Z-score 3.56
OE 0.11 (0.040.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
0.22Z-score
OE missense 0.97 (0.891.06)
359 obs / 370.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.11 (0.040.34)
00.351.4
Missense OE0.97 (0.891.06)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 2 / 18.5Missense obs/exp: 359 / 370.8Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

LZTS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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