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C1ORF2

Official Full Name
endosomal transmembrane epsin interactor 3
Organism
Homo sapiens
GeneID
10712
Background
This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Synonyms
ENTREP3; COTE1; C1orf2; FAM189B;

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