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Gene Information
Gene symbol: GCN5L2
Gene name: GCN5 general control of amino-acid synthesis 5-like 2 (yeast)
HGNC ID: 4201
Related Genes
| # | Gene Symbol | Number of hits |
| 1 | ADD3 | 1 hits |
| 2 | PCAF | 1 hits |
Related Sentences
| # | PMID | Sentence |
| 1 | 29768408 | A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies. |
| 2 | 29768408 | In order to define the contribution of ADD3 and KAT2B mutations for the patient phenotype, we performed functional experiments in the Drosophila model. |
| 3 | 29768408 | While the KAT2B/Gcn5 mutation additionally showed a significantly reduced ability to rescue morphological and functional defects of cardiomyocytes and nephrocytes (podocyte-like cells), this was not the case for the ADD3 mutant rescue. |
| 4 | 29768408 | Yet, the simultaneous knockdown of KAT2B and ADD3 synergistically impaired kidney and heart function in flies as well as the adhesion and migration capacity of cultured human podocytes, indicating that mutations in both genes may be required for the full clinical manifestation. |
| 5 | 29768408 | Altogether, our studies describe the expansion of the phenotypic spectrum in ADD3 deficiency associated with a homozygous likely pathogenic KAT2B variant and thereby identify KAT2B as a susceptibility gene for kidney and heart disease in ADD3-associated disorders. |