Identity
HGNC
LOCATION
2q35
LOCUSID
ALIAS
ALS22,H2-ALPHA,TUBA1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 7277
MIM: 191110
HGNC: 12407
Ensembl: ENSG00000127824
Variants:
dbSNP: 7277
ClinVar: 7277
TCGA: ENSG00000127824
COSMIC: TUBA4A
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38413182 | 2024 | Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation. | 0 |
| 38413182 | 2024 | Novel TUBA4A variant causes congenital myopathy with focal myofibrillar disorganisation. | 0 |
| 36747013 | 2023 | In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration. | 2 |
| 37418012 | 2023 | A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A. | 2 |
| 36747013 | 2023 | In silico analysis of TUBA4A mutations in Amyotrophic Lateral Sclerosis to define mechanisms of microtubule disintegration. | 2 |
| 37418012 | 2023 | A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A. | 2 |
| 30760556 | 2019 | An essential role for α4A-tubulin in platelet biogenesis. | 20 |
| 30760556 | 2019 | An essential role for α4A-tubulin in platelet biogenesis. | 20 |
| 29540513 | 2018 | Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of TUBA4A in ALS. | 8 |
| 30030593 | 2018 | Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS. | 24 |
| 29540513 | 2018 | Screening for TUBA4A mutations in a large Chinese cohort of patients with ALS: re-evaluating the pathogenesis of TUBA4A in ALS. | 8 |
| 30030593 | 2018 | Dysregulation of a novel miR-1825/TBCB/TUBA4A pathway in sporadic and familial ALS. | 24 |
| 28069311 | 2017 | Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients. | 32 |
| 28478440 | 2017 | Elevated Levels of Selenium Species in Cerebrospinal Fluid of Amyotrophic Lateral Sclerosis Patients with Disease-Associated Gene Mutations. | 15 |
| 28069311 | 2017 | Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients. | 32 |
Citation
Dessen P
TUBA4A (tubulin alpha 4a)
Atlas Genet Cytogenet Oncol Haematol. 2003-11-01
Online version: http://atlasgeneticsoncology.org/gene/42729/tuba4a
