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Summary Expression Phenotypes Gene Literature (1) GO Terms (34) Nucleotides (76) Proteins (40) Interactants (281) Wiki
XB-GENEPAGE-956630
???displayGene.symbol???:
 bscl2

???displayGene.name???: 
Berardinelli-Seip congenital lipodystrophy 2 (seipin)

???displayGene.synonyms???
MGC131138 , seipin ( Nomenclature history )

???displayGene.geneFunction???
Uncharacterized conserved protein

AI Protein Function :
The bscl2 gene encodes a protein localized to the endoplasmic reticulum membrane. It functions as an enzyme with 1-acylglycerol-3-phosphate O-acyltransferase activity, catalyzing the acylation of lysop...[+]


InterPro :
Seipin

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Diseases: 


Disease Ontology:
hereditary spastic paraplegia 17 [+]

MIM:
LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 [+]

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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