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| Cataract v0.369 | GBF1 | Ain Roesley Marked gene: GBF1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.369 | GBF1 | Ain Roesley Gene: gbf1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.369 | GBF1 |
Ain Roesley gene: GBF1 was added gene: GBF1 was added to Cataract. Sources: Literature Mode of inheritance for gene: GBF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GBF1 were set to 39110251 Phenotypes for gene: GBF1 were set to autosomal dominant cataract MONDO:0022672, GBF1-related Penetrance for gene: GBF1 were set to Complete Review for gene: GBF1 was set to RED gene: GBF1 was marked as current diagnostic Added comment: 1 missense in a multi-generational family. however, this variant has 98 hets on gnomad v4 and low conservation (changes in 2 mammals and reptiles). Using the human lens epithelium (HLE) cell line, we found that the p.T1287I mutation reduced GBF1 protein levels. Knockdown of endogenous GBF1 activated the unfolded protein response and enhanced autophagy, as well as increasing XBP1s protein levels and decreasing p-JNK1 protein levels. Heterozygous Gbf1 knockout (Gbf1+/-) mice also exhibited cataract malformation, while their littermate wild-type (Gbf1+/+) mice did not. Sources: Literature |
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