Aliases for TUBB4A Gene
External Ids for TUBB4A Gene
Previous HGNC Symbols for TUBB4A Gene
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]
GeneCards Summary for TUBB4A Gene
TUBB4A (Tubulin, Beta 4A Class IVa) is a Protein Coding gene. Diseases associated with TUBB4A include dystonia 4, torsion, autosomal dominant and leukodystrophy, hypomyelinating, 6. Among its related pathways are ERK Signaling and GPCR Pathway. GO annotations related to this gene include GTP binding and structural constituent of cytoskeleton. An important paralog of this gene is TUBB3.
UniProtKB/Swiss-Prot for TUBB4A Gene
Tubulin is the major constituent of microtubules. 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