The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
ELISA: Peptide ELISA: Antibody detection limit dilution 1/128000.
WB: Use at a concentration of 0.5 - 1.5 µg/ml. Detects a band of approximately 55 kDa (predicted molecular weight: 55 kDa).
Not yet tested in other applications.
Optimal dilutions/concentrations should be determined by the end user.
Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.
Widely expressed. High levels in kidney, prostate, testis and ovary.
Involvement in disease
Defects in ZMPSTE24 are the cause of mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]. 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) [MIM:275210]; 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.