TUBB4A

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolTUBB4A
Nametubulin beta 4A class IVa
Typeprotein-coding
Sourcemygene

Summary

This gene encodes a member of the beta tubulin family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. Mutations in this gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. Alternate splicing results in multiple transcript variants encoding different isoforms. A pseudogene of this gene is found on chromosome X. [provided by RefSeq, Jan 2014].

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