Cellular roles of proteins encoded by genes involved in HMMSs. Pathogenic germline mutations involved in HMMSs affect protein products that are involved in a variety of cellular mechanisms. CEBPA, ETV6, GATA2, RUNX1, and TP53 are transcription factors that localize to the nucleus.^{6,8,9,17-19,34,35,86}  TERT and TERC both constitute subunits of telomerase and also localize to the nucleus.⁸⁷  DDX41 is an RNA helicase and localizes to the cytosol.⁸⁸  SRP72 is a ribonucleoprotein that is involved in signal recognition, RNA binding, and cellular trafficking.⁸⁹  The function of ankyrin repeat domain-containing protein 26 is not well known, but the protein likely localizes to the inner part of the cell membrane and centrosome.⁸⁰  ER, endoplasmic reticulum.