May be involved in endosome fusion. Mediates down-regulation of growth factor signaling via internalization of growth factor receptors. Interacts with EEA1. Widely expressed in adult and fetal tissues. Variable expression in tumors. Down-regulated in breast cancer. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. Germline variants in SAMD9L with a suppressive effect on the cell cycle are associated with somatic loss of the chromosome 7 harboring the mutant allele. This results in the deletion of several genes and predisposes to the development of myelodysplastic syndrome and acute myelogenous leukemia. Dubious isoform produced through aberrant splice sites.