Tubulin beta-4A chain

From Wikipedia, the free encyclopedia
  (Redirected from TUBB4)
Jump to: navigation, search
TUBB4A
Protein TUBB4 PDB 1ffx.png
Identifiers
Aliases TUBB4A, DYT4, TUBB4, TUBB5, beta-5, tubulin beta 4A class IVa
External IDs MGI: 107848 HomoloGene: 55952 GeneCards: TUBB4A
RNA expression pattern
PBB GE TUBB4 212664 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_009451

RefSeq (protein)

NP_033477.2
NP_033477

Location (UCSC) Chr 19: 6.49 – 6.5 Mb Chr 17: 57.08 – 57.09 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Tubulin beta-4A chain is a protein that in humans is encoded by the TUBB4A gene. Two tubulin beta-4 chain proteins are encoded in the human genome by the genes TUBB4A (this entry) and TUBB4B.[3][4][5] Tubulin is the major constituent of microtubules, a key components of the cytoskeleton. 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. TUBB4A is preferentially and highly expressed in the central nervous system.[6]

Clinical significance[edit]

Mutations in TUBB4A have been associated with two neurological disorders.

An R2G substitution in the autoregulatory MREI domain of TUBB4A has been identified as the cause of 'hereditary whispering dysphonia' or DYT4.[7][8]

A de novo D249N mutation has been identified as the cause of a rare leukoencephalopathy, hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC).[9][10]

Mutations in TUBB4A are associated to Pelizaeus–Merzbacher disease .[11]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Hall JL, Dudley L, Dobner PR, Lewis SA, Cowan NJ (Aug 1983). "Identification of two human beta-tubulin isotypes". Molecular and Cellular Biology. 3 (5): 854–862. doi:10.1128/mcb.3.5.854. PMC 368608Freely accessible. PMID 6865944. 
  4. ^ Lee MG, Loomis C, Cowan NJ (Sep 1984). "Sequence of an expressed human beta-tubulin gene containing ten Alu family members". Nucleic Acids Research. 12 (14): 5823–5836. doi:10.1093/nar/12.14.5823. PMC 320034Freely accessible. PMID 6462917. 
  5. ^ "Entrez Gene: TUBB4 tubulin, beta 4". 
  6. ^ "UCSC Genome Browser: TUBB4A microarray expression". 
  7. ^ Hersheson J, Mencacci NE, Davis M, Macdonald N, Trabzuni D, Ryten M, Pittman A, Paudel R, Kara E, Fawcett K, Plagnol V, Bhatia KP, Medlar AJ, Stanescu HC, Hardy J, Kleta R, Wood NW, Houlden H (December 2012). "Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia". Annals of Neurology. 73: 546–553. doi:10.1002/ana.23832. PMC 3698699Freely accessible. PMID 23424103. 
  8. ^ Online Mendelian Inheritance in Man (OMIM) Dystonia 4, torsion, autosomal dominant; DYT4 -128101
  9. ^ Simons C, Wolf NI, McNeil N, Caldovic L, Devaney JM, Takanohashi A, Crawford J, Ru K, Grimmond SM, Miller D, Tonduti D, Schmidt JL, Chudnow RS, van Coster R, Lagae L, Kisler J, Sperner J, van der Knaap MS, Schiffmann R, Taft RJ, Vanderver A (May 2013). "A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum". American Journal of Human Genetics. 92 (5): 767–773. doi:10.1016/j.ajhg.2013.03.018. PMC 3644625Freely accessible. PMID 23582646. 
  10. ^ Online Mendelian Inheritance in Man (OMIM) Leukodystrophy, hypomyelinating, with atrophy of the basal ganglia and cerebellum; HABC -128101
  11. ^ Shimojima, K; Okumura, A; Ikeno, M; Nishimura, A; Saito, A; Saitsu, H; Matsumoto, N; Yamamoto, T (2014). "A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease". Brain & Development. 37: 281–285. doi:10.1016/j.braindev.2014.05.004. PMID 24974158. 

Further reading[edit]

External links[edit]