Gene: MSN

Alternate names for this Gene: HEL70|IMD50

Gene Summary: Moesin (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.

Gene is located in Chromosome: X

Location in Chromosome : Xq12

Description of this Gene: moesin

Type of Gene: protein-coding

rs143755874 in MSN gene and Alopecia PMID 28196072 2017 Genetic prediction of male pattern baldness.

rs1057519074 in MSN gene and IMMUNODEFICIENCY 50 PMID 28378256 2017 First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID.

PMID 27405666 2016 X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

PMID 29556235 2018 Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case.