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C1orf2 / FAM189B 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.
Gene Name: | family with sequence similarity 189, member B |
Synonyms: | FAM189B, COTE1, Protein FAM189B, Protein COTE1, C1orf2 |
Target Sequences: | NM_006589 NP_006580.2 P81408 |
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