Overview

Description

  • Nature

    Recombinant
  • Source

    Wheat germ
  • Amino Acid Sequence
    • Species

      Human
    • Sequence

      MIPVSLVVVVVGGWTVVYLTDLVLKSSVYFKHSYEDWLENNGLSISPFHI RWQTAVFNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGKTLMQ TLAQMMADSPSSYSSSSSSSSSSSSSSSSSSSSSSSLHNEQVLQVVVPGI NLPVNQLTYFFTAVLISGVVHEIGHGIAAIREQVRFNGFGIFLFIIYPGA FVDLFTTHLQLISPVQQLRIFCAGIWHNFVLALLGILALVLLPVILLPFY YTGVGVLITEVAEDSPAIGPRGLFVGDLVTHLQDCPVTNVQDWNECLDTI AYEPQIGYCISASTLQQLSFPVRAYKRLDGSTECCNNHSLTDVCFSYRNN FNKRLHTCLPARKAVEATQVCRTNKDCKKSSSSSFCIIPSLETHTRLIKV KHPPQIDMLYVGHPLHLHYTVSITSFIPRFNFLSIDLPVVVETFVKYLIS LSGALAIVNAVPCFALDGQWILNSFLDATLTSVIGDNDVKDLIGFFILLG GSVLLAANVTLGLWMVTAR
    • Amino acids

      1 to 519
    • Tags

      GST tag N-Terminus

Specifications

Our Abpromise guarantee covers the use of ab162519 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Applications

    ELISA

    Western blot

  • Form

    Liquid
  • Additional notes

    Protein concentration is above or equal to 0.05 mg/ml.
  • Concentration information loading...

Preparation and Storage

  • 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

  • Alternative names

    • BRESEK
    • Endopeptidase S2P
    • IFAP
    • KFSDX
    • MBTP2_HUMAN
    • MBTPS2
    • Membrane bound transcription factor site 2 protease
    • membrane-bound transcription factor peptidase, site 2
    • membrane-bound transcription factor protease, site 2
    • Membrane-bound transcription factor site-2 protease
    • S2P
    • S2P endopeptidase
    • Site 2 protease
    • SREBPs intramembrane protease
    • Sterol regulatory element-binding proteins intramembrane protease
    see all
  • Function

    Intramembrane 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.
  • Tissue specificity

    Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas.
  • Involvement in disease

    Defects 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 similarities

    Belongs to the peptidase M50A family.
  • Cellular localization

    Membrane. Cytoplasm.
  • Information by UniProt

Images

  • ab162519 on a 12.5% SDS-PAGE stained with Coomassie Blue.

References

ab162519 has not yet been referenced specifically in any publications.

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