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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 Antibodies (47) and many more products for this protein.
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Among the patients with pathogenic mutations detected, FZD4 (show FZD4 Proteins) mutations accounted for the largest proportion of autosomal inheritance FEVR (show NDP Proteins) cases (13/18 patients, 72.2%), followed by LRP5 (show LRP5 Proteins) (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 Proteins) 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.
Novel mutations have been described in the TSPAN12 gene in Chinese patients with familial exudative vitreoretinopathy.
These results suggest that stroma-derived p53 (show TP53 Proteins) plays a pivotal role in epithelial cancer progression and that TSPAN12 and CXCL6 are potential targets for lung cancer therapy.
TSPAN12 plays a role in supporting primary tumor growth and suppressing metastasis.
This study is the first report of recessive mutations in TSPAN12 and shows that patients with two mutant alleles have a severe form of FEVR (show NDP Proteins) or retinal dysplasia, whereas heterozygous family members have mild familial exudative vitreoretinopathy phenotypes
The largest miRNA-146a-TSPAN12 response to stress of amyloidbeta peptide + tumor necrosis factoralpha is found in human neuronal glial cells from Alzheimer brain.
We speculate that haploinsufficiency of TSPAN12 contributes to PHPV.
TSPAN12 mutations are responsible for familial exudative vitreoretinopathy (FEVR (show NDP Proteins)). The phenotypes associated with TSPAN12 mutations showed great variations between different individuals within a family and between the two eyes in individual patients.
Data indicate that Norrin (show NDP Proteins) multimers and TSPAN12 cooperatively promote multimerization of FZD4 (show FZD4 Proteins) 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