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The protein encoded by TSPAN12 is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Additionally we are shipping TSPAN12 Proteins (3) and many more products for this protein.
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The novel variant p.Cys189Arg in TSPAN12 was not identified in the affected 14-year-old daughter. Thus, we conclude that the heterozygous FZD4 (show FZD4 Antibodies) missense variant c.349T>C most likely represents a causative dominant mutation in this family with FEVR (show NDP Antibodies).
Probands with LRP5 (show LRP5 Antibodies) or NDP (show NDP Antibodies) mutations were mainly categorized into group III and IV, TSPAN12 mutations were mainly observed in probands with group IV and V FEVR (show NDP Antibodies).
Among the detected mutations, LRP5 (show LRP5 Antibodies) accounted for the largest proportion with a mean mutation rate of 16.1% (5/31, 16.1%), followed by NDP (show NDP Antibodies) (3/31, 9.7%), FZD4 (show FZD4 Antibodies) (2/31, 6.5%), TSPAN12 (1/31, 3.2%), and KIF11 (show KIF11 Antibodies) (1/31, 3.2%). All the novel changes were predicted to be pathogenic by a series of bioinformatics analyses.
FEVR (show NDP Antibodies)-associated genes contributing to the disorder's autosomal dominant inheritance pattern in Korea, we determined that patients with TSPAN12 large deletions were more common than patients with single nucleotide variants in TSPAN12.
TSPAN12 promotes chemoresistance and proliferation of small cell lung carcinoma under the regulation of miR (show MLXIP Antibodies)-495.
Several novel mutations (missense, non-stop (show USP22 Antibodies) and insertion) were detected in the coding regions of FZD4 (show FZD4 Antibodies), TSPAN12 and ZNF408 (show ZNF408 Antibodies) genes among the unrelated vitreoretinopathy probands.The mutations in FZD4 (show FZD4 Antibodies) and TSPAN12 were involved in autosomal dominant and autosomal recessive families and further validates the involvement of these gene in familial exudative vitreoretinopathy development.
The authors report a case of familial exudative vitreoretinopathy in the spectrum of osteoporosis pseudoglioma syndrome associated with novel mutations of the LRP5 (show LRP5 Antibodies) and TSPAN12 genes that resulted in a phenotype similar to bilateral persistent fetal vasculature.
Among the patients with pathogenic mutations detected, FZD4 (show FZD4 Antibodies) mutations accounted for the largest proportion of autosomal inheritance FEVR (show NDP Antibodies) cases (13/18 patients, 72.2%), followed by LRP5 (show LRP5 Antibodies) (4/18 patients, 22.2%) and TSPAN12 (1/18 patients, 5.6%).
Here we describe a case of a female infant affected by cystic fibrosis (show S100A8 Antibodies) and by a severe form of exudative vitreoretinopathy. In particular, we have detected the homozygous missense mutation c.668 T > C in TSPAN12.
Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.
Data indicate that Norrin (show NDP Antibodies) multimers and TSPAN12 cooperatively promote multimerization of FZD4 (show FZD4 Antibodies) and its associated proteins to elicit physiological levels of signaling.
The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.
, transmembrane 4 superfamily member 12
, tetraspan NET-2