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Last update 08 May 2025

TUBB4B

Last update 08 May 2025

Basic Info

Synonyms

Beta2, class IVb beta-tubulin, TUBB2C

+ [6]

Introduction

Tubulin is the major constituent of microtubules, a cylinder consisting of laterally associated linear protofilaments composed of alpha- and beta-tubulin heterodimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilizing cap forms. Below the cap, tubulin dimers are in GDP-bound state, owing to GTPase activity of alpha-tubulin.

Drugs associated with TUBB4B

Oxibendazole

Target

TUBB4B

Mechanism

TUBB4B inhibitors

Active Org.-

Originator Org.

GSK Plc

Active Indication-

Inactive Indication

Helminthiasis

Drug Highest PhaseDiscontinued

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with TUBB4B

PER-027-99

/ CompletedPhase 3

A RANDOMIZED, PARALLEL GROUP, OPEN LABEL STUDY TO EVALUATE DOSE RESPONSE, EFFICENCY, SAFETY AND TOLERABILITY OF A SINGLE DOSE OF 200 MG, 400 MG OR 800 MG OF OXIBENDAZOLE IN THE TREATMENT OF INFECTIONS BY TRICHURIS TRICHURA IN ADULTS

Start Date01 Jan 1900

Sponsor / Collaborator-

100 Clinical Results associated with TUBB4B

100 Translational Medicine associated with TUBB4B

0 Patents (Medical) associated with TUBB4B

162

Literatures (Medical) associated with TUBB4B

18 Apr 2025·International Journal of Ophthalmology

The first Chinese case with LCAEOD syndrome caused by mutation of TUBB4B gene

Letter

Author: Wang, Gang ; Liu, Yong ; Meng, Xiao-Hong ; Liu, Bo ; Liu, Xiao ; Long, Yan-Ling

01 Feb 2025·Molecular Genetics & Genomic Medicine

A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss

Article

Author: Nesti, Anna ; Zeuli, Roberta ; Karali, Marianthi ; Testa, Francesco ; Boccia, Rosa ; Auletta, Gennaro ; Banfi, Sandro ; Scarpato, Margherita ; Simonelli, Francesca

ABSTRACTBackgroundSensorineural hearing loss (SNHL) is a frequent manifestation of syndromic inherited retinal diseases (IRDs), exemplified by the very rare form of autosomal‐dominant Leber congenital amaurosis with early onset deafness (LCAEOD; OMIM #617879). LCAEOD was first described in 2017 in four families segregating heterozygous missense mutations in TUBB4B, a gene encoding a β‐tubulin isotype. To date, only eight more families with similar TUBB4B‐associated sensorineural disease (SND) have been reported. Most cases harbored missense variants affecting the same amino acid (Arg391) and only three families segregated variants involving different residues (Tyr310, Arg390).MethodsWe performed whole‐exome sequencing and a full ophthalmological and audiological examination of the affected members in an Italian family segregating syndromic IRD with early onset deafness.ResultsWe identified a novel, ultra‐rare, disease‐causing variant in TUBB4B (NM_006088.6:c.1049A>C) that replaces a highly conserved lysine with threonine at amino acid position 350. The functional impact of the Lys350Thr substitution was supported by protein structure modeling studies. The variant segregates in the family members presenting retinal disease with early onset SNHL. Detailed ophthalmological assessment of the affected subjects diagnosed a progressive cone‐rod dystrophy.ConclusionThese findings expand the limited number of disease‐causing TUBB4B variants, corroborating their association with SND forms, and suggest Lys350 is an important residue for β‐tubulin function. Interestingly, our results demonstrate that TUBB4B mutations can cause cone‐dominated retinal phenotypes.

01 Feb 2025·Alzheimer's & Dementia

The genetic landscape of early‐onset Alzheimer's disease in China

Article

Author: Jia, Jian‐Ping ; Wei, Yi‐Ping ; Liu, Wen‐Ying ; Wang, Qi‐Geng ; Wang, Qi ; Li, Fang‐Yu ; Cao, Shu‐Man ; Li, Yan ; Li, Ying ; Qin, Wei

AbstractINTRODUCTIONResearch on somatic and germline mutations in Chinese individuals with early‐onset Alzheimer's disease (EOAD) has been limited.METHODSWe conducted whole‐genome sequencing of blood DNA from 108 patients with EOAD and 116 controls. The analysis included somatic and germline mutations across coding and non‐coding regions, mutational signature determination, pathway enrichment identification, and predictive model.RESULTSThe mutational burden was significantly higher in the EOAD group compared to the control group. The prevalence of single‐base substitution signature 5, which is strongly associated with aging, was much higher in patients with EOAD than in controls. EOAD‐specific somatic mutations were identified in genes such as MIR31HG, TUBB4B, and APP. Germline mutations in DOCK3, PCSK5, and PDE4D were significantly associated with age of dementia onset. Furthermore, a predictive model comprising 15 mutations demonstrated an area under the curve of 0.78.DISCUSSIONThe accumulation of senescence‐related somatic mutations may increase the risk of developing EOAD.Highlights

Whole genome sequencing was used to find somatic and germline mutations in Chinese individuals with early‐onset Alzheimer's disease (EOAD).

Total number and burden of blood somatic mutations were significantly higher.

The prevalence of single‐base substitution signature 5 was notably elevated in EOAD.

EOAD‐specific somatic mutations were identified in MIR31HG, TUBB4B, and APP.

DOCK3, PCSK5, and PDE4D germline mutations were associated with the age of EOAD onset.

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TUBB4B

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