Protein-coding gene in the species Homo sapiens
Tubulin beta-4A chain is aprotein that in humans is encoded by theTUBB4A gene . Twotubulin beta-4 chainproteins are encoded in the human genome by thegenes TUBB4A (this entry) andTUBB4B .[ 5] [ 6] [ 7] microtubules , a key components of thecytoskeleton . It binds two molecules ofGTP , one at an exchangeable site on the beta-chain and one at a non-exchangeable site on the alpha-chain.TUBB4A is preferentially and highly expressed in the central nervous system.[ 8]
Clinical significance [ edit ] Mutations in TUBB4A have been associated with two neurological disorders.
An R2G substitution in the autoregulatory MREI domain of TUBB4A has been identified as the cause of 'hereditary whisperingdysphonia ' or DYT4.[ 9] [ 10]
Ade novo D249Nmutation has been identified as the cause of a rareleukoencephalopathy ,hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC ).[ 11] [ 12]
Mutations in TUBB4A are associated withPelizaeus–Merzbacher disease .[ 13]
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PDB gallery
1ffx : TUBULIN:STATHMIN-LIKE DOMAIN COMPLEX
1ia0 : KIF1A HEAD-MICROTUBULE COMPLEX STRUCTURE IN ATP-FORM
1jff : Refined structure of alpha-beta tubulin from zinc-induced sheets stabilized with taxol
1sa0 : TUBULIN-COLCHICINE: STATHMIN-LIKE DOMAIN COMPLEX
1sa1 : Tubulin-podophyllotoxin: stathmin-like domain complex
1tub : TUBULIN ALPHA-BETA DIMER, ELECTRON DIFFRACTION
1tvk : The binding mode of epothilone A on a,b-tubulin by electron crystallography
1z2b : Tubulin-colchicine-vinblastine: stathmin-like domain complex
2hxf : KIF1A head-microtubule complex structure in amppnp-form
2hxh : KIF1A head-microtubule complex structure in adp-form
