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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: CAAX prenyl protease 1 homolog; FACE-1; Farnesylated proteins-converting enzyme 1; farnesylated-proteins converting enzyme 1; FLJ14968; Prenyl protein-specific endoprotease 1; zinc metallopeptidase STE24; zinc metallopeptidase, STE24 homolog; Zinc metalloproteinase Ste24 homolog; zinc metalloproteinase, STE24 homolog
基因别名: A530043O15Rik; D030046F19; Face-1; FACE1; MADB; STE24; Ste24p; Zmpste24
UniProt ID: (Mouse) Q80W54
Entrez Gene ID: (Mouse) 230709, (Rat) 313564
分子生物学功能:
metalloprotease