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Product Name TCTN2 Chinese Name 结构蛋白家族2抗体 Alias C12orf38; FLJ12975; MKS8; OTTHUMP00000239215; OTTHUMP00000239216; Tctn2; TECT2; TECT2_HUMAN; Tectonic family member 2; Tectonic-2. Research Area Cell biology immunology Developmental biology Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Rat, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 74kDa Cellular localization cytoplasmic The cell membrane Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from Human TCTN2: 61-160/697 <Extracellular> Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail Defects in TCTN2 are the cause of Meckel syndrome type 8 (MKS8) [MIM:613885]. 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.
Function:
Component of the tectonic-like complex, a complexlocalized at the transition zone of primary cilia and acting as abarrier that prevents diffusion of transmembrane proteins betweenthe cilia and plasma membranes. Required for hedgehog signalingtransduction (By similarity).
Subunit:
Part of the tectonic-like complex (also named B9 complex)(By similarity).
Subcellular Location:
Membrane; Single-pass type I membraneprotein (Potential). Cytoplasm, cytoskeleton, cilium basal body (Bysimilarity). Note=Localizes at the transition zone, a regionbetween the basal body and the ciliary axoneme (By similarity).
DISEASE:
Defects in TCTN2 are the cause of Meckel syndrome type 8(MKS8) [MIM:613885]. A disorder characterized by a combination ofrenal cysts and variably associated features includingdevelopmental anomalies of the central nervous system (typicallyencephalocele), hepatic ductal dysplasia and cysts, andpolydactyly.
Note=Defects in TCTN2 may be a cause of Joubert syndrome,a disorder presenting with cerebellar ataxia, oculomotor apraxia,hypotonia, neonatal breathing abnormalities and psychomotor delay.Neuroradiologically, it is characterized by cerebellar vermianhypoplasia/aplasia, thickened and reoriented superior cerebellarpeduncles, and an abnormally large interpeduncular fossa, givingthe appearance of a molar tooth on transaxial slices (molar toothsign). Additional variable features include retinal dystrophy andrenal disease.
Similarity:
Belongs to the tectonic family.
SWISS:
Q96GX1
Gene ID:
79867
Database links:Entrez Gene: 79867 Human
Entrez Gene: 67978 Mouse
Omim: 613846 Human
SwissProt: Q96GX1 Human
SwissProt: Q2MV57 Mouse
Unigene: 167165 Human
Unigene: 93193 Mouse
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