tubulin beta 4A class IVa

Summary
Gene Symbol
  • TUBB4A
Organism
Homo sapiens (human)
NCBI Gene
10382
PubChem
10382
Alliance of Genome Resources
Annotation
Keyword
  • Cytoskeleton
  • Direct protein sequencing
  • Disease variant
  • Dystonia
  • GTP-binding
  • Isopeptide bond
  • Leukodystrophy
  • Magnesium
  • Metal-binding
  • Microtubule
  • Phosphoprotein
  • Reference proteome
Proteins
Displaying 1 entry
UniProt Protein Name
P04350
  • Tubulin 5 beta
  • Tubulin beta-4 chain
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
tubulin
Functional Category
  • D: Cell cycle control, cell division, chromosome partitioning
  • M: Cell wall/membrane/envelope biogenesis
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 9 entries
DO ID Disease Name Source
DOID:0050997 cerebellar ataxia, mental retardation and dysequlibrium syndrome
DOID:0060260 ptosis
DOID:0060798 hypomyelinating leukodystrophy 6
DOID:0090041 torsion dystonia 4
DOID:0090132 complex cortical dysplasia with other brain malformations 7
DOID:0112227 tubulinopathy
DOID:13934 facial paralysis
DOID:14452 hypokalemic periodic paralysis
DOID:3213 demyelinating disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024