ZMPSTE24 ist ein Gen, das durch das Symbol ZMPSTE24 kodiert wird. Es ist auch bekannt als: CAAX prenyl protease 1 homolog; Farnesylated proteins-converting enzyme 1; FACE-1; Prenyl protein-specific endoprotease 1; Zinc metalloproteinase Ste24 homolog; FACE1; STE24. ZMPSTE24 hat eine Masse von 54.81kDa, eine Aminosäurelänge von 475, und ist an folgenden Krankheiten beteiligt: Mandibuloacral dysplasia with type B lipodystrophy; Lethal tight skin contracture syndrome.
Wir bieten 9 antikörper gegen ZMPSTE24, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA and IP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.
Entrez Zusammenfassung
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.
Gewebespezifität
Widely expressed. High levels in kidney, prostate, testis and ovary.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the peptidase M48A family.
Zellort
Endoplasmic reticulum membrane. Nucleus inner membrane.
