ZMPSTE24 è un gene codificato dal simbolo ZMPSTE24. È noto anche come: CAAX prenyl protease 1 homolog; Farnesylated proteins-converting enzyme 1; FACE-1; Prenyl protein-specific endoprotease 1; Zinc metalloproteinase Ste24 homolog; FACE1; STE24. ZMPSTE24 ha una massa di 54.81kDa, una lunghezza di amminoacidi di 475, ed è implicato nella malattia: Mandibuloacral dysplasia with type B lipodystrophy; Lethal tight skin contracture syndrome.
Offriamo 9 anticorpi contro ZMPSTE24, allevati nel Coniglio e Capra, che sono adatti per WB, IHC, ELISA e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo UniProt
Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.
Sommario di 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.
Specificità del tessuto
Widely expressed. High levels in kidney, prostate, testis and ovary.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the peptidase M48A family.
Posizione cellulare
Endoplasmic reticulum membrane. Nucleus inner membrane.
