Recombinant Human S2P protein (ab162520)
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Overview
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Product nameRecombinant Human S2P protein
See all S2P 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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SequenceASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNNFNKRLHTCLPA RKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKVKHPPQIDMLYV GHPLHLH
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Amino acids312 to 418
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Tagsproprietary tag N-Terminus
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Specifications
Our Abpromise guarantee covers the use of ab162520 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
- BRESEK
- Endopeptidase S2P
- IFAP
see all -
FunctionIntramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop.
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Tissue specificityExpressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
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Involvement in diseaseDefects in MBTPS2 are the cause of ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]. A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy.
Defects in MBTPS2 are a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]. A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. -
Sequence similaritiesBelongs to the peptidase M50A family.
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Cellular localizationMembrane. Cytoplasm.
- Information by UniProt
Images
Datasheets and documents
References
ab162520 has not yet been referenced specifically in any publications.