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GENATLAS PHENOTYPE |
last update : 27-03-2009 |
Symbol | RDMP1 |
Location | 1p34.2 |
Name | restrictive dermopathy, lethal 1 |
Other name(s) |
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Corresponding gene | ZMPSTE24 |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | congenital malformation |
dermatology | |
Type | disease |
Gene product |
Name | zinc metalloproteinase (STE24 homolog, yeast) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| unknown
|  
| truncated protein
| 1bp insertion in exon 9, protein lacking the the seventh TM domain involved in the protease catalytic action and an inactive form of LMNA and its mislocalization
| |
Remark(s) |