ZMPSTE24 Antibody – Rabbit Polyclonal

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: Membrane protein, multi-pass; EC 3.4.24.84; Protease; Membrane protein, integral

Cellular Component: membrane; endoplasmic reticulum; integral to membrane; nucleus

Molecular Function: peptidase activity; hydrolase activity; metallopeptidase activity; metal ion binding; metalloendopeptidase activity

Biological Process: prenylated protein catabolic process; proteolysis; nuclear membrane organization and biogenesis