Gene Symbol | ZMPSTE24 |
Entrez Gene ID | 10269 |
Full Name | zinc metallopeptidase STE24 |
Synonyms | FACE-1,FACE1,HGPS,PRO1,STE24,Ste24p |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3); Restrictive dermopathy, lethal, 275210 (3) |