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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
LZTR1
leucine zipper like post translational regulator 1
Chromosome 22 Β· 22q11.21|22q11.1-q11.2
NCBI Gene: 8216Ensembl: ENSG00000099949.23HGNC: HGNC:6742UniProt: A0A384NL67
72PubMed Papers
24Diseases
0Drugs
798Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsmall GTPase bindingubiquitin-like ligase-substrate adaptor activityprotein ubiquitinationNoonan syndromeNoonan syndrome 10schwannomatosisLZTR1-related schwannomatosis
✦AI Summary

LZTR1 encodes a substrate-specific adapter protein of the BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that functions as a negative regulator of RAS-MAPK signaling 12. LZTR1 mediates ubiquitination of all three RAS isoforms (K-Ras, N-Ras, and H-Ras) at lysine-170, which attenuates their association with cell membranes and suppresses downstream signaling 12. Loss or inactivation of LZTR1 leads to decreased RAS ubiquitination, enhanced MAPK pathway activation, and increased membrane localization of RAS proteins 2. Disease-associated LZTR1 mutations impair either complex formation with CUL3 or RAS protein interaction, disrupting normal RAS regulation 1. Germline LZTR1 mutations predispose to multiple inherited conditions: autosomal dominant schwannomatosis (identified in ~80% of 22q-related cases lacking SMARCB1 mutations) 34, Noonan syndrome in both dominant and autosomal recessive patterns 15, and possibly other conditions including glioma 6. LZTR1 loss in Schwann cells specifically drives cellular dedifferentiation and proliferation 1. Notably, LZTR1 mutations identified in hepatocellular carcinoma genomic analyses suggest broader roles in cancer biology 7. Identifying LZTR1 variants is clinically important for differentiating schwannomatosis from other tumor predisposition syndromes.

Sources cited
1
LZTR1 mediates RAS ubiquitination at K170, inhibits RAS signaling by attenuating membrane association, and causes Noonan syndrome when mutated
PMID: 30442762
2
LZTR1 regulates RAS ubiquitination and MAPK pathway activity; LZTR1 inactivation increases membrane localization of KRAS
PMID: 30442766
3
Germline LZTR1 mutations predispose to autosomal dominant schwannomatosis in ~80% of 22q-related cases
PMID: 24362817
4
LZTR1 variants identified in 43% of familial and 30% of sporadic schwannomatosis cases; tumors show loss of LZTR1 protein expression
PMID: 25335493
5
Biallelic LZTR1 mutations cause autosomal recessive Noonan syndrome with variable phenotypic severity
PMID: 29469822
6
LZTR1 inactivating mutations are responsible for a majority of schwannomatosis cases
PMID: 34072574
7
LZTR1 identified as significantly mutated gene in hepatocellular carcinoma genomic analysis
PMID: 28622513
Disease Associationsβ“˜24
Noonan syndromeOpen Targets
0.83Strong
Noonan syndrome 10Open Targets
0.79Strong
schwannomatosisOpen Targets
0.79Strong
LZTR1-related schwannomatosisOpen Targets
0.75Strong
rasopathyOpen Targets
0.57Moderate
hereditary neoplastic syndromeOpen Targets
0.56Moderate
Inherited cancer-predisposing syndromeOpen Targets
0.56Moderate
Abnormality of the cardiovascular systemOpen Targets
0.56Moderate
Noonan syndrome and Noonan-related syndromeOpen Targets
0.49Moderate
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.45Moderate
hepatocellular carcinomaOpen Targets
0.45Moderate
Short statureOpen Targets
0.40Weak
cutaneous melanomaOpen Targets
0.37Weak
head and neck squamous cell carcinomaOpen Targets
0.37Weak
hydrops fetalisOpen Targets
0.37Weak
meningiomaOpen Targets
0.37Weak
gastric carcinomaOpen Targets
0.37Weak
Increased nuchal translucencyOpen Targets
0.37Weak
superficial spreading melanomaOpen Targets
0.37Weak
Transitional MeningiomaOpen Targets
0.37Weak
GliomaUniProt
Noonan syndrome 10UniProt
Noonan syndrome 2UniProt
Schwannomatosis 2UniProt
Pathogenic Variants798
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys)Pathogenic
not specified|Noonan syndrome 10;LZTR1-related schwannomatosis|not provided|Noonan syndrome and Noonan-related syndrome|Non-immune hydrops fetalis|RASopathy|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related disorder|Noonan syndrome 10|Noonan syndrome 10;Noonan syndrome 2
β˜…β˜…β˜…β˜†2025β†’ Residue 412
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)Likely pathogenic
Noonan syndrome 10|not provided|LZTR1-related schwannomatosis;Noonan syndrome 10|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related disorder|LZTR1-related schwannomatosis;Noonan syndrome 2;Noonan syndrome 10|RASopathy
β˜…β˜…β˜…β˜†2024β†’ Residue 284
NM_006767.4(LZTR1):c.1149+1G>ALikely pathogenic
not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|LZTR1-related schwannomatosis;Noonan syndrome 2;Noonan syndrome 10|RASopathy
β˜…β˜…β˜…β˜†2024
NM_006767.4(LZTR1):c.1149+1G>TLikely pathogenic
not provided|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|LZTR1-related schwannomatosis|RASopathy
β˜…β˜…β˜…β˜†2024
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)Likely pathogenic
not provided|Noonan syndrome 10|Noonan syndrome and Noonan-related syndrome|RASopathy|Noonan syndrome 1|Male infertility with azoospermia or oligozoospermia due to single gene mutation|LZTR1-related disorder|LZTR1-related schwannomatosis|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Neoplasm
β˜…β˜…β˜…β˜†2024β†’ Residue 283
NM_006767.4(LZTR1):c.263+1G>ALikely pathogenic
not provided|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|LZTR1-related schwannomatosis|LZTR1-related disorder|Noonan syndrome 2;LZTR1-related schwannomatosis;Noonan syndrome 10|RASopathy
β˜…β˜…β˜…β˜†2024
NM_006767.4(LZTR1):c.1030del (p.Ser344fs)Pathogenic
not provided|Noonan syndrome 2|RASopathy|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype
β˜…β˜…β˜…β˜†2024β†’ Residue 344
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter)Pathogenic
Noonan syndrome 2|not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|RASopathy
β˜…β˜…β˜…β˜†2024β†’ Residue 726
NM_006767.4(LZTR1):c.993+1G>APathogenic
Noonan syndrome 2|not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|not specified|RASopathy
β˜…β˜…β˜…β˜†2024
NM_006767.4(LZTR1):c.1943-256C>TPathogenic
not provided|Noonan syndrome 2|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Noonan syndrome|LZTR1-related schwannomatosis|RASopathy
β˜…β˜…β˜…β˜†2024
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu)Pathogenic
not provided|Noonan syndrome 10|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|LZTR1-related disorder|RASopathy|Noonan syndrome 10;LZTR1-related schwannomatosis
β˜…β˜…β˜…β˜†2024β†’ Residue 281
NM_006767.4(LZTR1):c.27dup (p.Gln10fs)Pathogenic
not provided|Noonan syndrome 2|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|Neoplasm|RASopathy
β˜…β˜…β˜…β˜†2024β†’ Residue 10
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)Likely pathogenic
not provided|Short stature|Noonan syndrome 10;LZTR1-related schwannomatosis|Schwannomatosis|Noonan syndrome 2|LZTR1-related schwannomatosis|Noonan syndrome and Noonan-related syndrome|See cases|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Noonan syndrome 10|Noonan syndrome 2;Noonan syndrome 10;LZTR1-related schwannomatosis|RASopathy|Hereditary cancer-predisposing syndrome
β˜…β˜…β˜…β˜†2024β†’ Residue 362
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)Likely pathogenic
Noonan syndrome 10|not provided|Noonan syndrome 10;LZTR1-related schwannomatosis|Fetal cystic hygroma|Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|LZTR1-related schwannomatosis|LZTR1-related disorder|RASopathy|Noonan syndrome 1|Noonan syndrome
β˜…β˜…β˜…β˜†2024β†’ Residue 248
NM_006767.4(LZTR1):c.264-13G>APathogenic
LZTR1-related schwannomatosis|not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|Noonan syndrome 2;LZTR1-related schwannomatosis;Noonan syndrome 10|Developmental disorder|Noonan syndrome 2|Schwannomatosis
β˜…β˜…β˜†β˜†2026
NM_006767.4(LZTR1):c.993+1G>TPathogenic
not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|Lung cancer
β˜…β˜…β˜†β˜†2026
NM_006767.4(LZTR1):c.791+1G>APathogenic
not provided|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|Schwannomatosis|Noonan syndrome 10
β˜…β˜…β˜†β˜†2026
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr)Likely pathogenic
not provided|Noonan syndrome 2|Hereditary cancer-predisposing syndrome;Cardiovascular phenotype|LZTR1-related schwannomatosis|Noonan syndrome 2;Noonan syndrome 10;LZTR1-related schwannomatosis|Noonan syndrome 10
β˜…β˜…β˜†β˜†2026β†’ Residue 796
NM_006767.4(LZTR1):c.1406G>A (p.Trp469Ter)Pathogenic
Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 469
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)Pathogenic
Cardiovascular phenotype;Hereditary cancer-predisposing syndrome|not provided|LZTR1-related schwannomatosis
β˜…β˜…β˜†β˜†2026β†’ Residue 202
View on ClinVar β†—
Related Genes
CUL3Protein interaction100%HRASProtein interaction99%RBX1Protein interaction99%NRASProtein interaction94%KLHL22Protein interaction93%KLHL42Protein interaction92%
Tissue Expression6 tissues
Ovary
100%
Lung
80%
Liver
76%
Brain
27%
Heart
20%
Bone Marrow
16%
Gene Interaction Network
Click a node to explore
LZTR1CUL3HRASRBX1NRASKLHL22KLHL42
PROTEIN STRUCTURE
Preparing viewer…
PDB9MEZ Β· 2.80 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
2.00LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF2.42 [1.89–2.00]
RankingsWhere LZTR1 stands among ~20K protein-coding genes
  • #6,559of 20,598
    Most Researched72
  • #55of 5,498
    Most Pathogenic Variants798 Β· top 5%
  • #17,839of 17,882
    Most Constrained (LOEUF)2.00
Genes detectedLZTR1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.
PMID: 34072574
Int J Mol Sci Β· 2021
1.00
2
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
PMID: 35674741
Genet Med Β· 2022
0.90
3
Comprehensive and Integrative Genomic Characterization of Hepatocellular Carcinoma.
PMID: 28622513
Cell Β· 2017
0.80
4
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
PMID: 25335493
Eur J Hum Genet Β· 2015
0.70
5
Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
PMID: 30442762
Science Β· 2018
0.60