Hutchinson-Gilford progeria syndrome
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Hutchinson-Gilford progeria syndrome(hŭch′ĭn-sən-gĭl′fərd)
ZMPSTE24A gene on chromosome 1p34 that encodes a member of the M48A peptidase amily, which is a zinc metalloproteinase involved in the post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A.
ZMPSTE24 mutations are linked to mandibuloacral dysplasia and restrictive dermopathy.