MyBioSource.com's Anti-TUBB4A Antibody, Rabbit Polyclonal is a Rabbit Polyclonal antibody. This antibody has been shown to work in applications such as: Immunocytochemistry, Immunofluorescence, and Western Blot. The Anti-TUBB4A Antibody, Rabbit Polyclonal was generated using TUBB4A as the antigen and it reacts with Human.
Description
The tubulin beta-4A gene (TUBB4A) is associated with two different clinical conditions, dystonia type 4 (DYT4) and hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Dystonia-4 (DYT4) is another autosomal dominant dystonia that is characterized by onset in the second to third decade of progressive laryngeal dysphonia. DYT4 is associated with the mutation of the TUBB4A gene. DYT4-associated TUBB4A mutants themselves form aberrant tubulin networks and inhibit neuronal process growth. Mutations in TUBB4A, encoding the tubulin isoform tubulin beta class IVA (Tubb4a), result in the symptom complex of hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC). Additionally, TUBB4A mutations are known to result in a broad phenotypic spectrum, ranging from primary dystonia (DYT4), isolated hypomyelination with spastic quadriplegia, and an infantile onset encephalopathy, suggesting multiple cell types may be involved