NP_766288
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
54,735 Da
NCBI Official Full Name
CAAX prenyl protease 1 homolog
NCBI Official Synonym Full Names
zinc metallopeptidase, STE24
NCBI Official Synonym Symbols
MADB; FACE1; STE24; Face-1; Ste24p; D030046F19; A530043O15Rik [Similar Products]
NCBI Protein Information
CAAX prenyl protease 1 homolog
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_MOUSE
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: Protease; Membrane protein, multi-pass; EC 3.4.24.84; Membrane protein, integral
Cellular Component: endoplasmic reticulum; integral to membrane; membrane; nucleus
Molecular Function: hydrolase activity; metal ion binding; metalloendopeptidase activity; metallopeptidase activity; peptidase activity
Biological Process: nuclear membrane organization and biogenesis; prenylated protein catabolic process; proteolysis
Research Articles on ZMPSTE24
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Products associated with anti-ZMPSTE24 antibody
Diseases associated with anti-ZMPSTE24 antibody
Organs/Tissues associated with anti-ZMPSTE24 antibody
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