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Description for Protein MBTPS2

membrane-bound transcription factor peptidase, site 2
1 total interacting proteins;
Icon Book Platelet Evidence (proteome studies/others : 0/0)
(Not detected in platelets)
Summary:
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. (PubMed Links)
Domains and Motifs:
  • TM: Transmembrane domain
    • Gene Ontology:
    Gene Ontology Annotations
    KEGG - Enzyme ID(s):
    3.4.24.85
    KEGG - Orthology:
    K07765
    KEGG - Pathway(s):
    None Available
    Nomenclature / Alternative Names:
    Site-2 protease; S2P; Sterol-regulatory element-binding proteins intramembrane protease; Membrane bound transcription factor protease site 2
    Approved Symbol:
    MBTPS2
    (De-) Phosphorylations:
    Total (de-) phosphorylation sites: 0
    No human (de-) phosphorylation sites; No platelet phosphorylation sites
    Phosphorylation Targets:
    Total phosphorylation targets: 0
    Human phosphorylation targets: 0;Predicted platelet targets: 0
    		Protein Characteristics:
    Isoform-specific Information
    Icon DrugsAssociated Drugs (DrugBank Accession):

    None Available

    Associated Genetic Diseases:

    None Available
    		Predicted Transmembrane Domains:
  • Isoform 1 : 6
    • Additional Identifiers:

    HPRD: 02243 Entrez Gene ID: 51360 OMIM ID: 300294 Swissprot Accession: O43462;