Details
| Name | LMNA G608G |
| Type | somatic mutation |
| Species | Homo sapiens |
| Tissue | skin tissue |
| Experiment Method | qPCR,Western blot,ChIP |
| Up/Down | Up |
| Pro/Anti | Pro |
| Funtion Description | 90% of HGPS cases carry the LMNA G608G (GGC>GGT) mutation within exon 11 of LMNA, activating a splice donor site that results in production of a dominant negative form of lamin A protein, denoted progerin. Our findings demonstrate that progerin expression |
| Regulation Gene | LMNA |
| Year | 2007 |
| Pubmed ID | 18060063 |
| Title | The mutant form of lamin A that causes Hutchinson-Gilford progeria is a biomarker of cellular aging in human skin. |
| Drug | NA |
| Disease | HGPS |
| Environment Factors | NA |
| Circulating | NA |
| Variant | NA |
| High-throughput | NA |