Recombinant Human ZMPSTE24 protein (ab160918)
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Overview
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Product nameRecombinant Human ZMPSTE24 protein
See all ZMPSTE24 proteins and peptides -
Protein lengthProtein fragment
Description
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NatureRecombinant
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SourceWheat germ
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Amino Acid Sequence
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SpeciesHuman
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SequenceVLSFCLTVLSRRFEFQADAFAKKLGKAKDLYSALIKLNKDNLGFPVSDWL FSMWHYSHPPLLERLQALKTMKQH
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Amino acids402 to 475
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Tagsproprietary tag N-Terminus
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Specifications
Our Abpromise guarantee covers the use of ab160918 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
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Applications
ELISA
Western blot
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FormLiquid
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Additional notesProtein concentration is above or equal to 0.05 mg/ml.
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Concentration information loading...
Preparation and Storage
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Stability and Storage
Shipped on dry ice. Upon delivery aliquot and store at -80ºC. Avoid freeze / thaw cycles.
pH: 8.00
Constituents: 0.31% Glutathione, 0.79% Tris HCl
General Info
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Alternative names
- CAAX prenyl protease 1 homolog
- FACE-1
- FACE1
see all -
FunctionProteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C.
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Tissue specificityWidely expressed. High levels in kidney, prostate, testis and ovary.
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Involvement in diseaseDefects 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. -
Sequence similaritiesBelongs to the peptidase M48A family.
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Cellular localizationEndoplasmic reticulum membrane. Golgi apparatus membrane.
- Information by UniProt
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References
ab160918 has not yet been referenced specifically in any publications.