TUBB4A
TUBB4A (tubulin beta 4A class IVa, also known as beta-5, TUBB4 and DYT4) is a member of the beta tubulin family. It heterodimerises with alpha-tubulin to form microtubules, the core cytoskeletal polymers of the cell. Browse Assay Genie's current range of TUBB4A research reagents below, or read on for the biology behind the target.
Tubulin is the major constituent of microtubules, which are cylinders made of laterally associated linear protofilaments built from alpha- and beta-tubulin heterodimers. The TUBB4A protein, tubulin beta-4A chain, contributes the beta subunit to these dimers. Microtubules grow by the addition of GTP-tubulin dimers to the microtubule end, where a stabilising cap forms. Below the cap, tubulin dimers are in the GDP-bound state, owing to the GTPase activity of alpha-tubulin.
The TUBB4A gene encodes a member of the beta tubulin family, one of two core protein families (alpha and beta tubulins) that heterodimerise and assemble into microtubules. The protein belongs to the tubulin family and is found in the cytoplasm as part of the cytoskeleton. Alternate splicing of the gene results in multiple transcript variants encoding different isoforms, and a pseudogene is found on chromosome X. The mouse ortholog is Tubb4a.
Mutations in the TUBB4A gene cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. The latter explains the alias DYT4 and the previous name dystonia 4, torsion (autosomal dominant). Earlier names include tubulin, beta 4 and tubulin, beta 4 class IVa, and the gene was formerly symbolised TUBB4. This makes TUBB4A a useful target for studying how a single tubulin isotype relates to neurological disease.
Beta tubulins pair with alpha tubulins to form the heterodimers from which microtubule protofilaments are assembled.
Microtubules grow by addition of GTP-tubulin dimers, with a stabilising cap above GDP-bound dimers, so tubulin isotypes inform studies of polymer behaviour.
Mutations in TUBB4A cause hypomyelinating leukodystrophy-6, making the gene relevant to myelin and white matter disease studies.
Mutations in TUBB4A cause autosomal dominant torsion dystonia-4, linking this tubulin isotype to movement disorder research.
TUBB4A encodes a beta tubulin. Beta tubulins heterodimerise with alpha tubulins, and these heterodimers assemble into microtubules, the cylindrical polymers of the cytoskeleton. Microtubules lengthen by addition of GTP-tubulin dimers at the end, where a stabilising cap forms.
TUBB4A is also called beta-5, TUBB4 and DYT4. Previous names include tubulin, beta 4; tubulin, beta 4 class IVa; and dystonia 4, torsion (autosomal dominant). The UniProt entry is named tubulin beta-4A chain. Alternate splicing yields multiple transcript variants encoding different isoforms.
Mutations in TUBB4A cause hypomyelinating leukodystrophy-6 and autosomal dominant torsion dystonia-4. A mouse ortholog, Tubb4a, exists, so rodent models can be considered; check the datasheet of any product for its validated reactivity.
Other members of the beta tubulin family and related microtubule components with products at Assay Genie.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P04350; product specifications from Assay Genie datasheets.