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Summary ExpressionExpr. PhenotypesPheno. Gene Literature (0)Lit. (0) GO Terms (29)GO (29) Nucleotides (82)Nucl. (82) Proteins (32)Prot. (32) Interactants (8)Interact. (8) Wiki
XB-GENEPAGE-953523
???displayGene.symbol???:
 mbtps2

???displayGene.name???: 
membrane bound transcription factor peptidase, site 2

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( Nomenclature history )

???displayGene.geneFunction???
intramembrane metalloprotease

AI Protein Function :
mbtps2 encodes a membrane‑bound metalloprotease of the site‑2 protease family that resides in the Golgi apparatus and mediates regulated intramembrane proteolysis of sterol regulatory element‑binding p...[+]


InterPro :
Peptidase M50, MBTPS2, PDZ sf

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Diseases: 


Disease Ontology:
osteogenesis imperfecta type 19 [+]

MIM:
KERATOSIS FOLLICULARIS SPINULOSA DECALVANS, X-LINKED; KFSDX [+]

External Links:
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???displayGene.expression???                  Development Stages                                               Embryonic Tissues                                                                Adult Tissues
More Information
Xenbase Expression Details In situ images Single cell data at SPRING In situ: RNA-Seq:


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