Tubulin beta-4A chain

Tubulin beta-4A chain is a protein that in humans is encoded by the TUBB4A gene. Two tubulin beta-4 chain proteins are encoded in the human genome by the genes TUBB4A (this entry) and TUBB4B.^[5][6][7] Tubulin is the major constituent of microtubules, a key components of the cytoskeleton. It binds two molecules of GTP, 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]

TUBB4A
Identifiers
Aliases	TUBB4A, DYT4, TUBB4, TUBB5, beta-5, tubulin beta 4A class IVa
External IDs	OMIM: 602662; MGI: 107848; HomoloGene: 55952; GeneCards: TUBB4A; OMA:TUBB4A - orthologs
Gene location (Human) Chr. Chromosome 19 (human)[1] Band 19p13.3 Start 6,494,319 bp[1] End 6,502,848 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17 D|17 29.66 cM Start 57,387,066 bp[2] End 57,394,782 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right hemisphere of cerebellum Brodmann area 10 C1 segment right frontal lobe paraflocculus of cerebellum middle frontal gyrus anterior cingulate cortex amygdala caudate nucleus internal globus pallidus Top expressed in primary visual cortex CA3 field perirhinal cortex superior frontal gyrus cerebellar cortex entorhinal cortex dentate gyrus of hippocampal formation granule cell central gray substance of midbrain neural layer of retina supraoptic nucleus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function nucleotide binding GTP binding structural constituent of cytoskeleton protein binding GTPase activity calcium ion binding Cellular component cytoplasm cytosol cell projection myelin sheath internode region of axon cilium soma microtubule extracellular exosome cytoskeleton nucleus microtubule cytoskeleton axoneme Biological process G2/M transition of mitotic cell cycle microtubule-based process cytoskeleton organization ciliary basal body-plasma membrane docking negative regulation of microtubule polymerization regulation of G2/M transition of mitotic cell cycle microtubule cytoskeleton organization mitotic cell cycle Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10382 22153 Ensembl ENSG00000104833 ENSMUSG00000062591 UniProt P04350 Q9D6F9 RefSeq (mRNA) NM_006087 NM_001289123 NM_001289127 NM_001289129 NM_001289130 NM_001289131 NM_009451 RefSeq (protein) NP_001276052 NP_001276056 NP_001276058 NP_001276059 NP_001276060 NP_006078 NP_033477 Location (UCSC) Chr 19: 6.49 – 6.5 Mb Chr 17: 57.39 – 57.39 Mb PubMed search [3] [4]
Wikidata
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Clinical significance

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 whispering dysphonia' or DYT4.^[9][10]

A de novo D249N mutation has been identified as the cause of a rare leukoencephalopathy, hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC).^[11][12]

Mutations in TUBB4A are associated with Pelizaeus–Merzbacher disease.^[13]