Details
| Name | LMNA |
| Type | SNP |
| Species | Homo sapiens |
| Tissue | Primary fibroblasts |
| Experiment Method | PCR,other |
| Up/Down | Up |
| Pro/Anti | Pro |
| Funtion Description | A single mutation in the LMNA gene that results in the constitutive expression of a truncated splicing mutant of lamin A known as progerin. Progerin accumulation leads to increased cellular stresses including unrepaired DNA damage, activation of the p53 |
| Regulation Gene | NA |
| Year | 2018 |
| Pubmed ID | 29429991 |
| Title | p53 isoforms regulate premature aging in human cells. |
| Drug | NA |
| Disease | the premature aging disorder Hutchinson-Gilford progeria syndrome |
| Environment Factors | NA |
| Circulating | NA |
| Variant | NA |
| High-throughput | NA |