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Mouse Anti-TCTN2 Recombinant Antibody (CBYJT-2425) (CBMAB-T1570-YJ)


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Summary

Host Animal
Mouse
Specificity
Human
Clone
CBYJT-2425
Antibody Isotype
IgG2a
Application
FC, ICC, IF, WB

Basic Information

Immunogen
Full length human recombinant protein of human TCTN2 (NP_079085) produced in HEK293T cell
Specificity
Human
Antibody Isotype
IgG2a
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Buffer
PBS, pH 7.3, 1% BSA, 50% Glycerol
Preservative
0.02% Sodium Azide
Storage
Store at 4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Tectonic Family Member 2
Introduction
TCTN2 is a type I membrane protein that belongs to the tectonic family. Studies in mice suggest that this protein may be involved in hedgehog signaling, and essential for ciliogenesis. Mutations in TCTN2 are associated with Meckel syndrome type 8.
Entrez Gene ID
79867
UniProt ID
Q96GX1
Alternative Names
Tectonic Family Member 2; C12orf38; TECT2; Chromosome 12 Open Reading Frame 38; Meckel Syndrome, Type 8; Tectonic-2; JBTS24; MKS8
Function
Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Required for hedgehog signaling transduction (By similarity).
Biological Process
Biological Process cilium assemblyISS:UniProtKB
Biological Process protein localization to ciliary transition zoneIBA:GO_Central1 Publication
Biological Process smoothened signaling pathwayISS:UniProtKB
Cellular Location
Membrane
Cytoplasm, cytoskeleton, cilium basal body
Localizes at the transition zone, a region between the basal body and the ciliary axoneme.
Involvement in disease
Meckel syndrome 8 (MKS8):
A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Joubert syndrome 24 (JBTS24):
A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly.
Topology
Extracellular: 26-668
Helical: 669-689
Cytoplasmic: 690-697
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For research use only. Not intended for any clinical use.

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