ZMPSTE24 est un gène codé par le symbole ZMPSTE24. Il est également connu sous le nom de: CAAX prenyl protease 1 homolog; Farnesylated proteins-converting enzyme 1; FACE-1; Prenyl protein-specific endoprotease 1; Zinc metalloproteinase Ste24 homolog; FACE1; STE24. ZMPSTE24 a une masse de 54.81kDa, une longueur d'acide aminé de 475, et est impliqué dans les maladies: Mandibuloacral dysplasia with type B lipodystrophy; Lethal tight skin contracture syndrome.
Nous proposons 9 des anticorps contre ZMPSTE24, élevé dans Lapin et Chèvre, qui sont appropriés pour le WB, IHC, ELISA et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.
Résumé Entrez
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.
Spécificité tissulaire
Widely expressed. High levels in kidney, prostate, testis and ovary.
Implication dans la maladie
Mandibuloacral dysplasia with type B lipodystrophy: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk.
Lethal tight skin contracture syndrome: 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.
Similitudes de séquence
Belongs to the peptidase M48A family.
Localisation cellulaire
Endoplasmic reticulum membrane. Nucleus inner membrane.
