beta Tubulin è un gene codificato dal simbolo TUBB. Altri nomi includono: Tubulin beta chain; Tubulin beta-5 chain; TUBB; TUBB5. beta Tubulin ha una massa di 49.67kDa, una lunghezza di amminoacidi di 444, ed è implicato nella malattia: Cortical dysplasia, complex, with other brain malformations 6; Skin creases, congenital symmetric circumferential, 1.
Offriamo 19 anticorpi contro beta Tubulin, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF, Citometria a Flusso, IP e Dot con campioni derivati da Umano, Topo, Ratto, Maiale, Coniglio, Scimmia, Pollo, C. elegans, Cane, Drosofila, Criceto, Stabilimenti e S. pombe.
Informazioni su geni e proteine
Riepilogo UniProt
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.
Sommario di Entrez
This gene encodes a beta tubulin protein. This protein forms a dimer with alpha tubulin and acts as a structural component of microtubules. Mutations in this gene cause cortical dysplasia, complex, with other brain malformations 6. Alternative splicing results in multiple splice variants. There are multiple pseudogenes for this gene on chromosomes 1, 6, 7, 8, 9, and 13.
Specificità del tessuto
Ubiquitously expressed with highest levels in spleen, thymus and immature brain.
Coinvolgimento nella malattia
Cortical dysplasia, complex, with other brain malformations 6: A disorder of aberrant neuronal migration and disturbed axonal guidance. Affected individuals have microcephaly, ataxia, and severe delayed psychomotor development. Brain imaging shows variable malformations of cortical development, including white matter streaks, dysmorphic basal ganglia, corpus callosum abnormalities, brainstem and cerebellar hypoplasia, cortical dysplasia, polymicrogyria.
Skin creases, congenital symmetric circumferential, 1: An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.
Somiglianze di sequenza
Belongs to the tubulin family.
Modifica post-translazionale
Some glutamate residues at the C-terminus are polyglutamylated, resulting in polyglutamate chains on the gamma-carboxyl group (PubMed:26875866). Polyglutamylation plays a key role in microtubule severing by spastin (SPAST). SPAST preferentially recognizes and acts on microtubules decorated with short polyglutamate tails: severing activity by SPAST increases as the number of glutamates per tubulin rises from one to eight, but decreases beyond this glutamylation threshold (PubMed:26875866).
Posizione cellulare
Cytoplasm > Cytoskeleton.
