| Name |
LMNA
|
| Type |
gene
|
| Species |
Homo sapiens
|
| Tissue |
Blood
|
| Experiment Method |
qRT-PCR,cDNA sequences,western blot
|
| Up/Down |
NA
|
| Pro/Anti |
NA
|
| Funtion Description |
Classical progeria is caused by the heterozygous point mutation c.1824C>T in the LMNA gene, which activates a cryptic splice site. The affected protein cannot be processed correctly to mature lamin A, but is modified into a farnesylated protein truncated
|
| Regulation Gene |
NA
|
| Year |
2012
|
| Pubmed ID |
22419169
|
| Title |
Neonatal progeria: increased ratio of progerin to lamin A leads to progeria of the newborn.
|
| Drug |
NA
|
| Disease |
NA
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
1
|
| High-throughput |
NA
|