GENETIC ENCYCLOPEDIA
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gene: MSN

id4478
symbolMSN
organismHomo sapiens
full namemoesin
summaryMoesin (for membrane-organizing extension spike protein) is a member of the ERM family which includes ezrin and radixin. ERM proteins appear to function as cross-linkers between plasma membranes and actin-based cytoskeletons. Moesin is localized to filopodia and other membranous protrusions that are important for cell-cell recognition and signaling and for cell movement. [provided by RefSeq, Jul 2008]
variant-disease

NM_002444.3(MSN):c.1580C>A (p.Ser527Ter) AND not provided

NM_002444.3(MSN):c.1657C>T (p.Arg553Ter) AND Immunodeficiency 50

NM_002444.3(MSN):c.511C>T (p.Arg171Trp) AND Immunodeficiency 50

NM_002444.3(MSN):c.50A>C (p.Glu17Ala) AND not provided

GRCh37/hg19 Xq11.2-12(chrX:64236940-65161851)x3 AND See cases

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