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SH3GL1 / EEN is a member of the endophilin family of Src homology 3 domain-containing proteins. The encoded protein is involved in endocytosis and may also play a role in the cell cycle. Overexpression of this gene may play a role in leukemogenesis, and the encoded protein has been implicated in acute myeloid leukemia as a fusion partner of the myeloid-lymphoid leukemia protein. Pseudogenes of this gene are located on the long arm of chromosomes 11 and 17. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Gene Name: | SH3-domain GRB2-like 1 |
Synonyms: | SH3GL1, CNSA1, Endophilin-A2, Endophilin-2, Extra 11-19 leukemia fusion, SH3-domain GRB2-like 1, SH3 domain protein 2B, EEN, EEN fusion partner of MLL, SH3D2B, SH3P8 |
Target Sequences: | NM_003025 NP_003016.1 Q99961 |
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