ZNF408 Antibody, FITC conjugated

1. This is the first study to report a group of patients with digenic familial exudative vitreoretinopathy (FEVR). In most affected eyes, the stage was more severe than stage 3. We speculate that the phenotype of FEVR is more severe in patients with digenic rather than monogenic variants of FEVR-related genes. PMID: 30097784
2. In conclusion, we report a novel mutation in ZNF408 causing autosomal recessive retinitis pigmentosa with vitreal alterations in three members of a Tunisian family, which further accentuates the role of this new gene in the susceptibility to retinitis pigmentosa. PMID: 28095122
3. Several novel mutations (missense, non-stop and insertion) were detected in the coding regions of FZD4, TSPAN12 and ZNF408 genes among the unrelated vitreoretinopathy probands. PMID: 27316669
4. ZNF408, previously associated with Familial Exudative Vitreoretinopathy (FEVR), is a new gene causing autosomal recessive rtinitis pigmentosa. PMID: 25882705
5. Data indicate ZNF408 missense variant (p.Ser126Asn) in 132 familial exudative vitreoretinopathy (FEVR) individuals in a Japanese family. PMID: 23716654

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HGNC: 20041

OMIM: 616454

KEGG: hsa:79797

STRING: 9606.ENSP00000309606

UniGene: Hs.656931