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TUBB3

This gene encodes a class III member of the beta tubulin protein family. Beta tubulins are one of two core protein families (alpha and beta tubulins) that heterodimerize and assemble to form microtubules. This protein is primarily expressed in neurons and may be involved in neurogenesis and axon guidance and maintenance. Mutations in this gene are the cause of congenital fibrosis of the extraocular muscles type 3. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 6. [provided by RefSeq, Oct 2010]
Protein class

Disease related genes, FDA approved drug targets, Human disease related genes, Plasma proteins

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Pancreatic endocrine cells, Inhibitory neurons, Excitatory neurons, Ductal cells, Gastric mucus-secreting cells, Exocrine glandular cells, Astrocytes)

Immune cell specificity

Immune cell enriched (naive B-cell)

Cell line specificity

Cell line enhanced (A549, SCLC-21H, SH-SY5Y)

Interaction

Dimer of alpha and beta chains. A typical microtubule is a hollow water-filled tube with an outer diameter of 25 nm and an inner diameter of 15 nM. Alpha-beta heterodimers associate head-to-tail to form protofilaments running lengthwise along the microtubule wall with the beta-tubulin subunit facing the microtubule plus end conferring a structural polarity. Microtubules usually have 13 protofilaments but different protofilament numbers can be found in some organisms and specialized cells. Interacts with UNC5C (via cytoplasmic domain); this interaction is decreased by NTN1/Netrin-1 (PubMed:28483977). Interacts with NLRP5/MATER at cytoskeleton microtubules (PubMed:24374158). Interacts with DPYSL5 (PubMed:33894126).

More Types Infomation

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