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|Synonyms||ATXPC | C7DELq | C7orf6 | DEL7q | DRIF2 | M7MLS1 | MLSM7 | SCA49 | UEF1|
|Gene Description||SAMD9L, sterile alpha motif domain containing 9 like, regulates endosome fusion and cytokine receptor degradation (PMID: 24029230), and plays a role in regulating cell proliferation, protein synthesis, DNA repair, and apoptosis (PMID: 33731850). SAMD9L mutations have been identified in patients with myelodysplastic syndrome (PMID: 30322869, PMID: 29217778, PMID: 28202457), and decreased SAMD9L expression has been observed in breast cancer (PMID: 17407603).|