TBCD Antibody

Code CSB-PA023229GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
TBCD
Alternative Names
Beta tubulin cofactor D antibody; Beta-tubulin cofactor D antibody; KIAA0988 antibody; SSD 1 antibody; SSD-1 antibody; SSD1 antibody; tbcd antibody; TBCD_HUMAN antibody; tfcD antibody; Tubulin folding cofactor D antibody; Tubulin specific chaperone D antibody; Tubulin-folding cofactor D antibody; Tubulin-specific chaperone D antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human TBCD
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Tubulin-folding protein implicated in the first step of the tubulin folding pathway and required for tubulin complex assembly. Involved in the regulation of microtubule polymerization or depolymerization, it modulates microtubule dynamics by capturing GTP-bound beta-tubulin (TUBB). Its ability to interact with beta tubulin is regulated via its interaction with ARL2. Acts as a GTPase-activating protein (GAP) for ARL2. Induces microtubule disruption in absence of ARL2. Increases degradation of beta tubulin, when overexpressed in polarized cells. Promotes epithelial cell detachment, a process antagonized by ARL2. Induces tight adherens and tight junctions disassembly at the lateral cell membrane. Required for correct assembly and maintenance of the mitotic spindle, and proper progression of mitosis. Involved in neuron morphogenesis.
Gene References into Functions
  1. TBCD protein was localized in the middle region and in the tail of the sperm while in the oocyte the localization was cytosolic. PMID: 28583220
  2. Authors conclude that TBCD is a novel functional contributor to the mammalian cerebral cortex development, and that the pathological mechanism resulting from the mutations we describe is likely to involve compromised interactions with one or more TBCD-interacting effectors that influence the dynamics and behaviour of the neuronal cytoskeleton. PMID: 28158450
  3. conclude that the TBCD*ARL2*beta-tubulin complex represents a functional intermediate in the beta-tubulin folding pathway whose activity is regulated by the cycling of nucleotides on ARL2 PMID: 28970104
  4. Results identified ARL2 and TBCD, as important in tubulin folding and microtubule dynamics. Both ARL2 and TBCD also localize to centrosomes. [review] PMID: 27400436
  5. variants. We identified two candidate homozygous missense variants, R942Q in the tubulin-folding cofactor D (TBCD) gene and H250Q in the bromo-adjacent homology domain and coiled-coil containing 1 (BAHCC1) gene, located on chromosome 17q25.3 with an interval of 1.4 Mbp. PMID: 27928163
  6. Intractable epilepsy, intellectual disability and acquired microcephaly, and cortical atrophy and thinned corpus callosum as major MRI features, caused by biallelic variants in TBCD. PMID: 27807845
  7. findings establish that defective TBCD function underlies a recognizable encephalopathy and drives accelerated microtubule polymerization and enhanced microtubule stability, underscoring an additional cause of altered microtubule dynamics with impact on neuronal function and survival in the developing brain PMID: 27666370
  8. Defects of microtubule formation caused by TBCD mutations may underlie the pathomechanism of a neurodegenerative encephalopathy. PMID: 27666374
  9. genetic polymorphism is associated with bone mineral accretion in children with asthma receiving intermittent oral corticosteroids PMID: 26025128
  10. Data show that bovine and human TBCD have functionally identical roles in tubulin heterodimer assembly, and that the inability of human TBCD to disrupt microtubule integrity can be overcome by siRNA-mediated suppression of expression of Arl2. PMID: 20740604
  11. provides first evidence that beta-tubulin cofactor D plays a role in cells independent of its presumed role in folding tubulin heterodimers PMID: 17704193
  12. Cofactor D functions as a centrosomal protein and is required for the recruitment of the gamma-tubulin ring complex at centrosomes and organization of the mitotic spindle PMID: 18171676

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Involvement in disease
Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum (PEBAT)
Subcellular Location
Cell junction, tight junction. Lateral cell membrane. Cytoplasm. Cell junction, adherens junction. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
Protein Families
TBCD family
Tissue Specificity
Ubiquitously expressed.
Database Links

HGNC: 11581

OMIM: 604649

KEGG: hsa:6904

STRING: 9606.ENSP00000347719

UniGene: Hs.464391

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