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Official Full Name: endosomal transmembrane epsin interactor 3
Also known as: COTE1; C1orf2; FAM189B
This gene is located near the lysosomal glycosylceramidase gene; a deficiency of this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of WW domain proteins involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants.
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