NP_005848.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
54,813 Da
NCBI Official Full Name
CAAX prenyl protease 1 homolog
NCBI Official Synonym Full Names
zinc metallopeptidase STE24
NCBI Official Synonym Symbols
HGPS; PRO1; FACE1; STE24; FACE-1; Ste24p [Similar Products]
NCBI Protein Information
CAAX prenyl protease 1 homolog; zinc metallopeptidase STE24 homolog; zinc metalloproteinase Ste24 homolog; prenyl protein-specific endoprotease 1; farnesylated proteins-converting enzyme 1
UniProt Protein Name
CAAX prenyl protease 1 homolog
UniProt Synonym Protein Names
Farnesylated proteins-converting enzyme 1; FACE-1; Prenyl protein-specific endoprotease 1; Zinc metalloproteinase Ste24 homolog
UniProt Synonym Gene Names
UniProt Entry Name
FACE1_HUMAN
NCBI Summary for ZMPSTE24
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]
UniProt Comments for ZMPSTE24
ZMPSTE24: Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C. Defects in ZMPSTE24 are the cause of mandibuloacral dysplasia with type B lipodystrophy (MADB). Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and types A or B patterns of lipodystrophy. Type B lipodystrophy observed in MADB, is characterized by generalized fat loss. Defects in ZMPSTE24 are a cause of lethal tight skin contracture syndrome (LTSCS); also called restrictive dermopathy (RD). Lethal tight skin contracture syndrome is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of consanguineous cases suggested an autosomal recessive inheritance. Belongs to the peptidase M48A family.
Protein type: Membrane protein, multi-pass; EC 3.4.24.84; Protease; Membrane protein, integral
Chromosomal Location of Human Ortholog: 1p34
Cellular Component: endoplasmic reticulum membrane; membrane; integral to membrane; nuclear inner membrane
Molecular Function: metalloexopeptidase activity; metalloendopeptidase activity; metal ion binding
Biological Process: prenylated protein catabolic process; proteolysis; nuclear membrane organization and biogenesis
Disease: Restrictive Dermopathy, Lethal; Mandibuloacral Dysplasia With Type B Lipodystrophy
Research Articles on ZMPSTE24
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Products associated with ZMPSTE24 elisa kit
Pathways associated with ZMPSTE24 elisa kit
Diseases associated with ZMPSTE24 elisa kit
Organs/Tissues associated with ZMPSTE24 elisa kit
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