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 DiG... See more...

Aliases for LZTR1 Gene

Aliases for LZTR1 Gene

  • Leucine Zipper Like Transcription Regulator 1 2 3 5
  • Leucine-Zipper-Like Transcriptional Regulator 1 2 3 4
  • LZTR-1 2 3 4
  • BTBD29 2 3
  • Epididymis Secretory Sperm Binding Protein 3
  • SWNTS2 3
  • LZTR1 5
  • TCFL2 4
  • NS10 3
  • NS2 3

External Ids for LZTR1 Gene

Previous GeneCards Identifiers for LZTR1 Gene

  • GC22P018035
  • GC22P019660
  • GC22P019661
  • GC22P021339
  • GC22P004604
  • GC22P021450
  • GC22P020979

Summaries for LZTR1 Gene

Entrez Gene Summary for LZTR1 Gene

  • 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]

CIViC Summary for LZTR1 Gene

GeneCards Summary for LZTR1 Gene

LZTR1 (Leucine Zipper Like Transcription Regulator 1) is a Protein Coding gene. Diseases associated with LZTR1 include Schwannomatosis 2 and Noonan Syndrome 10. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity. An important paralog of this gene is HCFC1.

UniProtKB/Swiss-Prot Summary for LZTR1 Gene

  • Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, PubMed:30481304). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes (PubMed:30442762, PubMed:30442766, PubMed:30481304).

Gene Wiki entry for LZTR1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for LZTR1 Gene

Genomics for LZTR1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for LZTR1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around LZTR1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for LZTR1

Top Transcription factor binding sites by QIAGEN in the LZTR1 gene promoter:
  • E47
  • Pax-4a
  • PPAR-alpha
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT1
  • STAT1alpha
  • STAT1beta
  • Tal-1

Genomic Locations for LZTR1 Gene

Latest Assembly
chr22:20,982,269-20,999,032
(GRCh38/hg38)
Size:
16,764 bases
Orientation:
Plus strand

Previous Assembly
chr22:21,336,586-21,353,321
(GRCh37/hg19 by Entrez Gene)
Size:
16,736 bases
Orientation:
Plus strand

chr22:21,333,751-21,353,327
(GRCh37/hg19 by Ensembl)
Size:
19,577 bases
Orientation:
Plus strand

Genomic View for LZTR1 Gene

Genes around LZTR1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
LZTR1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for LZTR1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for LZTR1 Gene

Proteins for LZTR1 Gene

  • Protein details for LZTR1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N653-LZTR1_HUMAN
    Recommended name:
    Leucine-zipper-like transcriptional regulator 1
    Protein Accession:
    Q8N653
    Secondary Accessions:
    • Q14776
    • Q20WK0

    Protein attributes for LZTR1 Gene

    Size:
    840 amino acids
    Molecular mass:
    94719 Da
    Quaternary structure:
    • Homodimer (PubMed:30442762). Component of the BCR(LZTR1) E3 ubiquitin ligase complex, at least composed of CUL3, LZTR1 and RBX1 (PubMed:30442762, PubMed:30442766). Interacts with Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762). Interacts with RAF1 (PubMed:30368668). Interacts with SHOC2 (PubMed:30368668). Interacts with PPP1CB (PubMed:30368668).
    SequenceCaution:
    • Sequence=BAA07508.1; Type=Frameshift; Evidence={ECO:0000305};

neXtProt entry for LZTR1 Gene

Post-translational modifications for LZTR1 Gene

  • Phosphorylated on tyrosine upon induction of apoptosis, leading to its degradation by the proteasome.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibodies for research

  • Abcam antibodies for LZTR1
  • Boster Bio Antibodies for LZTR1

No data available for DME Specific Peptides for LZTR1 Gene

Domains & Families for LZTR1 Gene

Gene Families for LZTR1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for LZTR1 Gene

InterPro:
Blocks:
  • Kelch
  • BTB/POZ domain
ProtoNet:

Suggested Antigen Peptide Sequences for LZTR1 Gene

GenScript: Design optimal peptide antigens:
  • Leucine-zipper-like transcriptional regulator 1 (LZTR1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q8N653

UniProtKB/Swiss-Prot:

LZTR1_HUMAN :
  • Belongs to the LZTR1 family.
Family:
  • Belongs to the LZTR1 family.
genes like me logo Genes that share domains with LZTR1: view

Function for LZTR1 Gene

Molecular function for LZTR1 Gene

UniProtKB/Swiss-Prot Function:
Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex that mediates ubiquitination of Ras (K-Ras/KRAS, N-Ras/NRAS and H-Ras/HRAS) (PubMed:30442762, PubMed:30442766, PubMed:30481304). Is a negative regulator of RAS-MAPK signaling that acts by controlling Ras levels and decreasing Ras association with membranes (PubMed:30442762, PubMed:30442766, PubMed:30481304).
GENATLAS Biochemistry:
leucine zipper-like transcriptional regulator 1,deleted in DiGeorge syndrome

Phenotypes From GWAS Catalog for LZTR1 Gene

Gene Ontology (GO) - Molecular Function for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 19060904
GO:0031267 small GTPase binding IDA 30442762
genes like me logo Genes that share ontologies with LZTR1: view
genes like me logo Genes that share phenotypes with LZTR1: view

Human Phenotype Ontology for LZTR1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for LZTR1 Gene

MGI Knock Outs for LZTR1:
  • Lztr1 Lztr1<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LZTR1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for LZTR1 Gene

Localization for LZTR1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for LZTR1 Gene

Endomembrane system. Recycling endosome. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for LZTR1 gene
Compartment Confidence
endosome 5
golgi apparatus 5
nucleus 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centrosome (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IBA,IDA 16356934
GO:0012505 endomembrane system IEA,IDA 30442762
GO:0016020 membrane IEA --
GO:0031463 Cul3-RING ubiquitin ligase complex IDA 30442762
genes like me logo Genes that share ontologies with LZTR1: view

Pathways & Interactions for LZTR1 Gene

PathCards logo

SuperPathways for LZTR1 Gene

No Data Available

UniProtKB/Swiss-Prot Q8N653-LZTR1_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Interacting Proteins for LZTR1 Gene

SIGNOR curated interactions for LZTR1 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for LZTR1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016567 protein ubiquitination IEA --
GO:0046580 negative regulation of Ras protein signal transduction IDA 30442762
genes like me logo Genes that share ontologies with LZTR1: view

No data available for Pathways by source for LZTR1 Gene

Drugs & Compounds for LZTR1 Gene

No Compound Related Data Available

Transcripts for LZTR1 Gene

mRNA/cDNA for LZTR1 Gene

1 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
22 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for LZTR1

Alternative Splicing Database (ASD) splice patterns (SP) for LZTR1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17a · 17b · 17c ·
SP1: - - - -
SP2: - -
SP3:
SP4: -
SP5: - - -
SP6: - -
SP7:
SP8: -
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

ExUns: 17d · 17e ^ 18a · 18b · 18c ^ 19a · 19b · 19c ^ 20a · 20b · 20c · 20d ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b · 24c
SP1: - - -
SP2:
SP3: - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9: - - -
SP10: -
SP11:
SP12:
SP13:
SP14: - - - - -
SP15:

Relevant External Links for LZTR1 Gene

GeneLoc Exon Structure for
LZTR1

Expression for LZTR1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for LZTR1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for LZTR1 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (56.1) and CD8 Tcells (9.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for LZTR1 Gene



Protein tissue co-expression partners for LZTR1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for LZTR1

SOURCE GeneReport for Unigene cluster for LZTR1 Gene:

Hs.78788

Evidence on tissue expression from TISSUES for LZTR1 Gene

  • Nervous system(4.9)
  • Skin(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for LZTR1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • aorta
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • liver
  • spleen
Pelvis:
  • pelvis
  • placenta
  • testicle
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • lymph vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with LZTR1: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for LZTR1 Gene

Orthologs for LZTR1 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for LZTR1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LZTR1 30 31
  • 99.29 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LZTR1 30 31
  • 91.24 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia LZTR1 30 31
  • 90.08 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Lztr1 30
  • 87.95 (n)
Mouse
(Mus musculus)
Mammalia Lztr1 30 17 31
  • 87.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia LZTR1 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 78 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
-- 31
  • 68 (a)
OneToMany
Chicken
(Gallus gallus)
Aves LZTR1 30
  • 80.04 (n)
-- 31
  • 21 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia LZTR1 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia lztr1 30
  • 75.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii lztr1 30 31
  • 76.91 (n)
OneToOne
Dr.19626 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5275 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004292 30
  • 61.15 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG3711 30 31
  • 60.46 (n)
OneToOne
EG:BACR7A4.19 32
  • 44 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes KEL2 31
  • 14 (a)
ManyToMany
KEL1 31
  • 11 (a)
ManyToMany
Species where no ortholog for LZTR1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for LZTR1 Gene

ENSEMBL:
Gene Tree for LZTR1 (if available)
TreeFam:
Gene Tree for LZTR1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for LZTR1: view image

Paralogs for LZTR1 Gene

(1) SIMAP similar genes for LZTR1 Gene using alignment to 8 proteins:

  • LZTR1_HUMAN
  • B7Z3T9_HUMAN
  • F8WB67_HUMAN
  • F8WCB6_HUMAN
  • F8WEQ8_HUMAN
  • H7BZQ9_HUMAN
  • H7C0X1_HUMAN
  • H7C305_HUMAN
genes like me logo Genes that share paralogs with LZTR1: view

Variants for LZTR1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for LZTR1 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
835137 Uncertain Significance: not provided 20,982,555(+) G/A
NM_006767.4(LZTR1):c.184G>A (p.Glu62Lys)
MISSENSE
835301 Pathogenic: not provided 20,988,065(+) CTT/C
NM_006767.4(LZTR1):c.458_459del (p.Leu152_Phe153insTer)
NONSENSE
837777 Uncertain Significance: not provided 20,995,841(+) G/C
NM_006767.4(LZTR1):c.2038G>C (p.Ala680Pro)
MISSENSE
839110 Uncertain Significance: not provided 20,991,741(+) C/T
NM_006767.4(LZTR1):c.905C>T (p.Ala302Val)
MISSENSE
839278 Uncertain Significance: not provided 20,994,224(+) C/T
NM_006767.4(LZTR1):c.1570C>T (p.Leu524Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for LZTR1 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for LZTR1 Gene

Variant ID Type Subtype PubMed ID
dgv4483n100 CNV gain 25217958
dgv7993n54 CNV gain 21841781
dgv7994n54 CNV gain 21841781
esv2678175 CNV deletion 23128226
esv2763693 CNV gain 21179565
esv3647304 CNV loss 21293372
esv3647305 CNV gain 21293372
esv3893441 CNV gain+loss 25118596
nsv1056614 CNV loss 25217958
nsv1062280 CNV gain 25217958
nsv1065617 CNV gain 25217958
nsv436864 CNV insertion 17901297
nsv471185 CNV loss 18288195
nsv520145 CNV loss 19592680
nsv523162 CNV loss 19592680
nsv588305 CNV loss 21841781
nsv588306 CNV gain 21841781
nsv828960 CNV loss 20364138
nsv828961 CNV gain 20364138
nsv834141 CNV loss 17160897
nsv834142 CNV gain 17160897

Variation tolerance for LZTR1 Gene

Residual Variation Intolerance Score: 1.37% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for LZTR1 Gene

Human Gene Mutation Database (HGMD)
LZTR1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
LZTR1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for LZTR1 Gene

Disorders for LZTR1 Gene

MalaCards: The human disease database

(43) MalaCards diseases for LZTR1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search LZTR1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

LZTR1_HUMAN
  • Glioma (GLM) [MIM:137800]: Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. {ECO:0000269 PubMed:30442766}. Note=The protein represented in this entry may be involved in disease pathogenesis.
  • Schwannomatosis 2 (SWNTS2) [MIM:615670]: A cancer predisposition syndrome in which patients develop multiple non-vestibular schwannomas, benign neoplasms that arise from Schwann cells of the cranial, peripheral, and autonomic nerves. {ECO:0000269 PubMed:24362817, ECO:0000269 PubMed:25335493, ECO:0000269 PubMed:25480913, ECO:0000269 PubMed:30442762, ECO:0000269 PubMed:30442766, ECO:0000269 PubMed:30481304}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Noonan syndrome 10 (NS10) [MIM:616564]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS10 inheritance is autosomal dominant. {ECO:0000269 PubMed:25795793, ECO:0000269 PubMed:29959388, ECO:0000269 PubMed:30368668, ECO:0000269 PubMed:30442762, ECO:0000269 PubMed:30442766, ECO:0000269 PubMed:30481304}. Note=The disease is caused by variants affecting the gene represented in this entry.
  • Noonan syndrome 2 (NS2) [MIM:605275]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. NS2 inheritance is autosomal recessive. {ECO:0000269 PubMed:29469822, ECO:0000269 PubMed:30368668, ECO:0000269 PubMed:30481304}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Additional Disease Information for LZTR1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with LZTR1: view

No data available for Genatlas for LZTR1 Gene

Publications for LZTR1 Gene

  1. The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis. (PMID: 16356934) Nacak TG … Kroll J (The Journal of biological chemistry 2006) 2 3 4 23
  2. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. (PMID: 25795793) Yamamoto GL … Bertola DR (Journal of medical genetics 2015) 3 4 74
  3. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. (PMID: 24362817) Piotrowski A … Messiaen LM (Nature genetics 2014) 3 4 74
  4. Isolation and characterization of a novel gene deleted in DiGeorge syndrome. (PMID: 7633402) Kurahashi H … Nishisho I (Human molecular genetics 1995) 2 3 4
  5. Oligo-astrocytoma in LZTR1-related Noonan syndrome. (PMID: 30664951) Jacquinet A … Verloes A (European journal of medical genetics 2020) 3 74

Products for LZTR1 Gene

Sources for LZTR1 Gene