This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with au... See more...

Aliases for TUBB1 Gene

Aliases for TUBB1 Gene

  • Tubulin Beta 1 Class VI 2 3 5
  • Tubulin Beta-1 Chain 3 4
  • Tubulin, Beta 1 2 3
  • Class VI Beta-Tubulin 2
  • DJ543J19.4 2
  • TUBB1 5

External Ids for TUBB1 Gene

Previous GeneCards Identifiers for TUBB1 Gene

  • GC20P057322
  • GC20P058232
  • GC20P058279
  • GC20P057027
  • GC20P057594
  • GC20P054381

Summaries for TUBB1 Gene

Entrez Gene Summary for TUBB1 Gene

  • This gene encodes a member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is specifically expressed in platelets and megakaryocytes and may be involved in proplatelet production and platelet release. A mutations in this gene is associated with autosomal dominant macrothrombocytopenia. Two pseudogenes of this gene are found on chromosome Y.[provided by RefSeq, Jul 2010]

GeneCards Summary for TUBB1 Gene

TUBB1 (Tubulin Beta 1 Class VI) is a Protein Coding gene. Diseases associated with TUBB1 include Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related and Autosomal Dominant Macrothrombocytopenia. Among its related pathways are G-Beta Gamma Signaling and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB2B.

UniProtKB/Swiss-Prot Summary for TUBB1 Gene

  • Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).

Tocris Summary for TUBB1 Gene

  • Microtubules are cylindrical tubes of 20-25 nm in diameter. They are composed of protofilaments which are in turn composed of alpha- and beta-tubulin polymers. Each microtubule is polarized; at one end alpha-subunits are exposed (-) and at the other, beta-subunits are exposed (+).

Gene Wiki entry for TUBB1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TUBB1 Gene

Genomics for TUBB1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TUBB1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH20J059016 Promoter/Enhancer 1.4 EPDnew ENCODE dbSUPER 250.7 +1.0 1040 1.7 SSRP1 CEBPA CHD4 KLF11 ZFP64 HOMEZ FOXA2 KDM6A SMAD4 ZNF511 TUBB1 PRELID3B NELFCD STX16 ENSG00000225806 HSALNG0131300 ATP5F1E
GH20J059015 Promoter/Enhancer 1.1 Ensembl dbSUPER 250.7 -0.2 -225 0.8 SSRP1 CHD4 KLF11 ZFP64 HOMEZ KDM6A SAP130 MIER3 DMAP1 THRB TUBB1 NELFCD STX16 ENSG00000225806 PRELID3B HSALNG0131299 CTSZ
GH20J059019 Promoter/Enhancer 1 EPDnew dbSUPER 250.7 +3.4 3384 0.1 IKZF1 ZNF592 TBP ZNF316 NFE2 RELA MLLT1 HDAC2 MAFG POLR2A TUBB1 HSALNG0131300 ATP5F1E
GH20J059014 Enhancer 0.9 ENCODE dbSUPER 250.7 -1.6 -1553 0.9 IKZF1 ZNF592 TAL1 HDAC2 MAFK ZEB2 JUND NRF1 TCF12 TEAD4 HSALNG0131299 TUBB1 NELFCD PRELID3B CTSZ
GH20J059021 Promoter/Enhancer 0.8 EPDnew dbSUPER 250.7 +3.0 3018 0.1 IKZF1 RELA MAFG MTA3 MNT RBFOX2 TUBB1 HSALNG0131300 ATP5F1E
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TUBB1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TUBB1

Top Transcription factor binding sites by QIAGEN in the TUBB1 gene promoter:
  • ATF
  • C/EBPalpha
  • C/EBPbeta
  • En-1
  • Pax-6
  • SRF
  • SRF (504 AA)
  • YY1

Genomic Locations for TUBB1 Gene

Latest Assembly
chr20:59,016,026-59,026,654
(GRCh38/hg38)
Size:
10,629 bases
Orientation:
Plus strand

Previous Assembly
chr20:57,594,484-57,601,709
(GRCh37/hg19 by Entrez Gene)
Size:
7,226 bases
Orientation:
Plus strand

chr20:57,594,309-57,601,709
(GRCh37/hg19 by Ensembl)
Size:
7,401 bases
Orientation:
Plus strand

Genomic View for TUBB1 Gene

Genes around TUBB1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TUBB1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TUBB1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TUBB1 Gene

Proteins for TUBB1 Gene

  • Protein details for TUBB1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9H4B7-TBB1_HUMAN
    Recommended name:
    Tubulin beta-1 chain
    Protein Accession:
    Q9H4B7

    Protein attributes for TUBB1 Gene

    Size:
    451 amino acids
    Molecular mass:
    50327 Da
    Quaternary structure:
    • Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with RANBP10.

neXtProt entry for TUBB1 Gene

Post-translational modifications for TUBB1 Gene

  • Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
  • Some glutamate residues at the C-terminus are monoglycylated but not polyglycylated due to the absence of functional TTLL10 in human. Monoglycylation is mainly limited to tubulin incorporated into axonemes (cilia and flagella). Both polyglutamylation and monoglycylation can coexist on the same protein on adjacent residues, and lowering glycylation levels increases polyglutamylation, and reciprocally. The precise function of monoglycylation is still unclear (Probable).
  • Phosphorylated on Ser-172 by CDK1 during the cell cycle, from metaphase to telophase, but not in interphase. This phosphorylation inhibits tubulin incorporation into microtubules.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TUBB1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TUBB1 Gene

Domains & Families for TUBB1 Gene

Gene Families for TUBB1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for TUBB1 Gene

GenScript: Design optimal peptide antigens:
  • Tubulin beta-1 chain (TBB1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H4B7

UniProtKB/Swiss-Prot:

TBB1_HUMAN :
  • Belongs to the tubulin family.
Family:
  • Belongs to the tubulin family.
genes like me logo Genes that share domains with TUBB1: view

Function for TUBB1 Gene

Molecular function for TUBB1 Gene

UniProtKB/Swiss-Prot Function:
Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain (By similarity).

Phenotypes From GWAS Catalog for TUBB1 Gene

Gene Ontology (GO) - Molecular Function for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003924 GTPase activity IEA --
GO:0005200 structural constituent of cytoskeleton IBA 21873635
GO:0005525 GTP binding IBA 21873635
genes like me logo Genes that share ontologies with TUBB1: view
genes like me logo Genes that share phenotypes with TUBB1: view

Human Phenotype Ontology for TUBB1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TUBB1 Gene

MGI Knock Outs for TUBB1:

miRNA for TUBB1 Gene

miRTarBase miRNAs that target TUBB1

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TUBB1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TUBB1 Gene

Localization for TUBB1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TUBB1 Gene

Cytoplasm, cytoskeleton.

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 TUBB1 gene
Compartment Confidence
extracellular 4
cytoskeleton 4
cytosol 3
nucleus 2
plasma membrane 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytokinetic bridge (3)
  • Microtubules (3)
  • Mitotic spindle (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA,IDA 18849486
GO:0005856 cytoskeleton IEA --
GO:0005874 microtubule IBA 21873635
GO:0070062 extracellular exosome HDA 23533145
genes like me logo Genes that share ontologies with TUBB1: view

Pathways & Interactions for TUBB1 Gene

genes like me logo Genes that share pathways with TUBB1: view

Pathways by source for TUBB1 Gene

10 GeneGo (Thomson Reuters) pathways for TUBB1 Gene
  • Cell adhesion Gap junctions
  • Cell cycle_Spindle assembly and chromosome separation
  • Cytoskeleton remodeling Keratin filaments
  • Cytoskeleton remodeling Neurofilaments
  • Cytoskeleton remodeling Reverse signaling by ephrin B
11 Qiagen pathways for TUBB1 Gene
  • 14-3-3 Induced Intracellular Signaling
  • Breast Cancer Regulation by Stathmin1
  • Epithelial Adherens Junctions
  • Epithelial Tight Junctions
  • Germ Cell-Sertoli Cell Junction Dynamics

Gene Ontology (GO) - Biological Process for TUBB1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000226 microtubule cytoskeleton organization IBA 21873635
GO:0000278 mitotic cell cycle IBA 21873635
GO:0007017 microtubule-based process IEA --
GO:0051225 spindle assembly IEA --
genes like me logo Genes that share ontologies with TUBB1: view

No data available for SIGNOR curated interactions for TUBB1 Gene

Drugs & Compounds for TUBB1 Gene

(30) Drugs for TUBB1 Gene - From: DrugBank, PharmGKB, ApexBio, DGIdb, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cabazitaxel Approved Pharma Target, binder, inhibitor 0
Docetaxel Approved, Investigational Pharma Target, Inhibition, inhibitor, Biomarker Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2429
Paclitaxel Approved, Vet_approved Pharma Target, inhibitor, Biomarker, binder Tubulin and Bcl2 inhibitor, Taxanes 3989
Vindesine Approved, Investigational Pharma Target, inhibitor, binder 55
Eribulin Approved, Investigational Pharma Target 0

(2) Additional Compounds for TUBB1 Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Noscapine hydrochloride
912-60-7
taxol
33069-62-4

(5) Tocris Compounds for TUBB1 Gene

Compound Action Cas Number
MPC 6827 hydrochloride Inhibitor of microtubule polymerization; antimitotic and antitumor 917369-31-4
Nocodazole Microtubule inhibitor 31430-18-9
Noscapine hydrochloride Tubulin inhibitor; induces apoptosis 912-60-7
Taxol Promotes assembly and inhibits disassembly of microtubules 33069-62-4
Vinblastine sulfate Disrupts microtubules 143-67-9

(1) ApexBio Compounds for TUBB1 Gene

Compound Action Cas Number
Cabazitaxel 183133-96-2
genes like me logo Genes that share compounds with TUBB1: view

Drug products for research

Transcripts for TUBB1 Gene

mRNA/cDNA for TUBB1 Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 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 TUBB1

Alternative Splicing Database (ASD) splice patterns (SP) for TUBB1 Gene

No ASD Table

Relevant External Links for TUBB1 Gene

GeneLoc Exon Structure for
TUBB1

Expression for TUBB1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TUBB1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TUBB1 Gene

This gene is overexpressed in Whole Blood (x38.4).

Protein differential expression in normal tissues from HIPED for TUBB1 Gene

This gene is overexpressed in Platelet (43.1) and Peripheral blood mononuclear cells (16.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TUBB1 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TUBB1

SOURCE GeneReport for Unigene cluster for TUBB1 Gene:

Hs.303023

mRNA Expression by UniProt/SwissProt for TUBB1 Gene:

Q9H4B7-TBB1_HUMAN
Tissue specificity: Hematopoietic cell-specific. Major isotype in leukocytes, where it represents 50% of all beta-tubulins.

Evidence on tissue expression from TISSUES for TUBB1 Gene

  • Blood(4.5)
  • Nervous system(4.4)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TUBB1 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
Regions:
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with TUBB1: view

Primer products for research

No data available for Protein tissue co-expression partners for TUBB1 Gene

Orthologs for TUBB1 Gene

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

Orthologs for TUBB1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TUBB1 29 30
  • 99.56 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TUBB1 30
  • 90 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TUBB1 30
  • 88 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Tubb1 29 16 30
  • 85.37 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Tubb1 29
  • 85.34 (n)
Cow
(Bos Taurus)
Mammalia TUBB1 29 30
  • 84.42 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TUBB1 29 30
  • 81.4 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TUBB1 29 30
  • 76.28 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TUBB1 30
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100498230 29
  • 76.77 (n)
Zebrafish
(Danio rerio)
Actinopterygii tubb1 29 30
  • 71.78 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta &bgr;Tub56D 31
  • 87 (a)
&bgr;Tub85D 31
  • 79 (a)
betaTub85D 30
  • 78 (a)
OneToMany
CG4869 31
  • 77 (a)
&bgr;Tub60D 31
  • 77 (a)
Worm
(Caenorhabditis elegans)
Secernentea tbb-4 30 31
  • 78 (a)
ManyToMany
tbb-2 31
  • 78 (a)
mec-7 30 31
  • 77 (a)
ManyToMany
ben-1 31
  • 77 (a)
tbb-1 31
  • 76 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes TUB2 30
  • 66 (a)
OneToMany
Species where no ortholog for TUBB1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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)

Evolution for TUBB1 Gene

ENSEMBL:
Gene Tree for TUBB1 (if available)
TreeFam:
Gene Tree for TUBB1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TUBB1: view image
Alliance of Genome Resources:
Additional Orthologs for TUBB1

Paralogs for TUBB1 Gene

Pseudogenes.org Pseudogenes for TUBB1 Gene

genes like me logo Genes that share paralogs with TUBB1: view

Variants for TUBB1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TUBB1 Gene

SNP ID Clinical significance and condition Chr 20 pos Variation AA Info Type
1028901 Likely Pathogenic: Autosomal dominant macrothrombocytopenia TUBB1-related 59,019,580(+) G/A
NM_030773.4(TUBB1):c.57+1G>A
SPLICE_DONOR
871094 Uncertain Significance: Thrombocytopenia; Abnormal bleeding; not provided 59,022,855(+) T/C
NM_030773.4(TUBB1):c.68T>C (p.Met23Thr)
MISSENSE
988861 Uncertain Significance: Thrombocytopenia; Abnormal bleeding 59,019,535(+) G/A
NM_030773.4(TUBB1):c.13G>A (p.Val5Ile)
MISSENSE
988864 Uncertain Significance: Thrombocytopenia; Abnormal bleeding 59,024,148(+) C/T
NM_030773.4(TUBB1):c.721C>T (p.Arg241Trp)
MISSENSE
988869 Uncertain Significance: Thrombocytopenia; Abnormal bleeding 59,019,526(+) C/T
NM_030773.4(TUBB1):c.4C>T (p.Arg2Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TUBB1 Gene

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

Variation tolerance for TUBB1 Gene

Residual Variation Intolerance Score: 81.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.76; 89.42% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TUBB1 Gene

Human Gene Mutation Database (HGMD)
TUBB1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TUBB1
Leiden Open Variation Database (LOVD)
TUBB1

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for TUBB1 Gene

Disorders for TUBB1 Gene

MalaCards: The human disease database

(12) MalaCards diseases for TUBB1 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search TUBB1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBB1_HUMAN
  • Macrothrombocytopenia, autosomal dominant, TUBB1-related (MAD-TUBB1) [MIM:613112]: A congenital blood disorder characterized by increased platelet size and decreased number of circulating platelets. {ECO:0000269 PubMed:18849486}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for TUBB1

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 TUBB1: view

No data available for Genatlas for TUBB1 Gene

Publications for TUBB1 Gene

  1. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. (PMID: 18849486) Kunishima S … Saito H (Blood 2009) 3 4 72
  2. The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure. (PMID: 15956286) Freson K … Van Geet C (Blood 2005) 3 4 40
  3. Tumoral and tissue-specific expression of the major human beta-tubulin isotypes. (PMID: 20191564) Leandro-García LJ … Rodríguez-Antona C (Cytoskeleton (Hoboken, N.J.) 2010) 3 4
  4. Study of 18 functional hemostatic polymorphisms in mucocutaneous bleeding disorders. (PMID: 20532885) Antón AI … Mezzano D (Annals of hematology 2010) 3 40
  5. Genotype-phenotype relationship for six common polymorphisms in genes affecting platelet function from 286 healthy subjects and 160 patients with mucocutaneous bleeding of unknown cause. (PMID: 19388931) Martínez C … Rivera J (British journal of haematology 2009) 3 40

Products for TUBB1 Gene

Sources for TUBB1 Gene