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Human RABEP1 wild-type allele is located in the vicinity of 17p13.2 and is approximately 104 kb in length. This allele, which encodes Rab GTPase-binding effector protein 1, plays a role in the modulation of both endocytosis and Rab GTPase activity. A chromosomal translocation t(5;17)(q33;p13) of this gene and the PDGFRB gene is associated with chronic myelomonocytic leukemia.
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