Form
Liquid
Buffer
PBS, 150mM NaCl, 50% Glycerol
Preservative
0.02% Sodium azide
Storage
Store as concentrated solution. Centrifuge briefly prior to opening vial. For short-term storage (1-2 weeks), store at 4ºC. For long-term storage, aliquot and store at -20ºC or below. Avoid multiple freeze-thaw cycles.
Concentration
Batch dependent (Please refer to the vial label for the specific concentration.)
Antigen Species
Human
Immunogen
The antiserum was produced against synthesized peptide derived from human MBTPS2 (301-350).
Purification
Purified by antigen-affinity chromatography
From serum
Conjugation
Unconjugated
Note
For laboratory use only. Not for any clinical, therapeutic, or diagnostic use in humans or animals. Not for animal or human consumption.
Synonyms
BRESEK , IFAP , KFSD , KFSDX , MBTPS2 , OLMSX , S2P , membrane bound transcription factor peptidase, site 2
Cellular Localization
Membrane,Cytoplasm
Background
This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
Database
Research Area