TUBB4

TUBB4A
Identifiers
Aliases	TUBB4A, DYT4, TUBB4, TUBB5, beta-5, tubulin beta 4A class IVa
External IDs	MGI: 107848 HomoloGene: 55952 GeneCards: TUBB4A
Gene ontology Molecular function • nucleotide binding • GTP binding • structural constituent of cytoskeleton • protein binding • GTPase activity Cellular component • cytoplasm • cytosol • cell projection • myelin sheath • internode region of axon • cilium • neuronal cell body • microtubule • extracellular exosome • cytoskeleton • nucleus • microtubule cytoskeleton Biological process • G2/M transition of mitotic cell cycle • microtubule-based process • cytoskeleton organization • ciliary basal body docking Sources:Amigo / QuickGO
RNA expression pattern
More reference expression data
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_033477.2 NP_033477
Location (UCSC)	Chr 19: 6.49 – 6.5 Mb	Chr 17: 57.08 – 57.09 Mb
PubMed search

10382

22153

ENSG00000104833

ENSMUSG00000062591

P04350

Q9D6F9

NM_001289131

NM_009451

NP_006078

NP_033477.2
NP_033477

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. Tubulin is the major constituent of microtubules, a key components of the cytoskeleton. 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. TUBB4A is preferentially and highly expressed in the central nervous system.

Mutations in TUBB4A have been associated with two neurological disorders.

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Wikipedia