Product Overview
Description
CLPP-00150309 is recombinant human TUBB3 protein
Protein Length
Full length protein
Nature
Recombinant Protein
Sequence
MGSSHHHHHHSSGLVPRGSHMGSMREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLERISVYYNEASSHKYVPRAILVDLEPGTMDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVRE
EYPDRIMNTFSVVPSPKVSDTVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK
Sequence Similarities
Belongs to the tubulin family.
Predicted Molecular Weight
53 kDa including tags
Target Information
Alternative Names
beta 3 tubulin; beta 4; beta-4; CDCBM; CDCBM1; CFEOM3; CFEOM3A; FEOM3; M(beta)3; M(beta)6; MC1R; Neuron specific beta III Tubulin; Neuron-specific class III beta-tubulin; QccE-11995; QccE-15186; TBB3_HUMAN; Tubb 3; TUBB3; TUBB4; Tubulin beta 3; Tubulin beta 3 chain; Tubulin beta 4; Tubulin beta III; Tubulin beta-3 chain; Tubulin beta-4 chain; Tubulin beta-III; tuj 1; tuj1
Protein Function
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. TUBB3 plays a critical role in proper axon guidance and mantainance.
Tissue Specificity
Expression is primarily restricted to central and peripheral nervous system.
Involvement in Disease
Defects in TUBB3 are the cause of congenital fibrosis of extraocular muscles type 3A (CFEOM3A). A congenital ocular motility disorder marked by restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. It is clinically characterized by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. Congenital fibrosis of extraocular muscles type 3 presents as a non-progressive, autosomal dominant disorder with variable expression. Patients may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia (with the eyes fixed in a hypo- and exotropic position), to mild asymptomatic restrictions of ocular movement. Ptosis, refractive error, amblyopia, and compensatory head positions are associated with the more severe forms of the disorder. In some cases the ocular phenotype is accompanied by additional features including developmental delay, corpus callosum agenesis, basal ganglia dysmorphism, facial weakness, polyneuropathy.
Shipping & Handling
Constituents
0.02% DTT, 0.32% Tris HCl, 10% Glycerol (glycerin, glycerine), 0.88% Sodium chloride.
Shipping
Shipped at 4 °C.
Storage
Store at -20 °C or -80 °C.
