Aliases for ZMPSTE24 Gene
External Ids for ZMPSTE24 Gene
Previous GeneCards Identifiers for ZMPSTE24 Gene
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]
GeneCards Summary for ZMPSTE24 Gene
ZMPSTE24 (Zinc Metallopeptidase STE24) is a Protein Coding gene. Diseases associated with ZMPSTE24 include Restrictive Dermopathy, Lethal and Mandibuloacral Dysplasia With Type B Lipodystrophy. Among its related pathways are Terpenoid backbone biosynthesis and Adipogenesis. GO annotations related to this gene include metalloendopeptidase activity and metalloexopeptidase activity.
UniProtKB/Swiss-Prot for ZMPSTE24 Gene
Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.