| Name |
ZMPSTE24
|
| Type |
somatic mutation
|
| Species |
Homo sapiens
|
| Tissue |
NA
|
| Experiment Method |
RT-PCR
|
| Up/Down |
NA
|
| Pro/Anti |
Pro
|
| Funtion Description |
This work describes a HGPS patient with a combined defect of a homozygous loss-of-function mutation in the ZMPSTE24 gene and a heterozygous mutation in the LMNA gene that results in a C-terminal elongation of the final lamin A.
|
| Regulation Gene |
NA
|
| Year |
2006
|
| Pubmed ID |
16671095
|
| Title |
A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS.
|
| Drug |
NA
|
| Disease |
Hutchinson-Gilford progeria syndrome
|
| Environment Factors |
NA
|
| Circulating |
NA
|
| Variant |
somatic mutation
|
| High-throughput |
NA
|