Gene Symbol | TUBB4A |
Entrez Gene ID | 10382 |
Full Name | tubulin beta 4A class IVa |
Synonyms | DYT4,TUBB4,beta-5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Dystonia 4, torsion, autosomal dominant, 128101 (3); Leukodystrophy, hypomyelinating, 6, 612438 (3) |