Alt. symbols: HEL70 | IMD50

Approved name: moesin
Alt. names: moesin | epididymis luminal protein 70 | membraneorganizing extension spike protein

Location: Xq12: 65588377 - 65741931 (+)
Gene type: protein_coding, 16 transcripts.

Scores: LoFtool: | pLI: 0.99355715 | LOEUF: 0.130

HGNC: 7373

NCBI: 4478, RefSeq: NG_012516.1

Ensembl: ENSG00000147065.18

LRG_ | Status: none

OMIM: 309845

Expression | ProteinAtlas

This gene encodes Moesin (Membrane-Organizing Extension Spike protein), a member of the ERM (Ezrin-radixin-moesin) family, which also includes proteins ezrin and radixin. Moesin connects the actin cytoskeleton to the plasma membrane and thereby regulates the structure and function of specific domains of the cell cortex. Moesin transiently interacts with the actin cytoskeleton (tethers actin filaments) by oscillating between a resting and an activated state. Once phosphorylated moesin becomes active and interacts with F-actin leading to cytoskeletal rearrangement. These rearrangements regulate many cellular processes, including cell shape determination, membrane transport, and signal transduction. The role of moesin is particularly important in immunity acting on both T and B-cells homeostasis and self-tolerance, regulating lymphocyte egress from lymphoid organs, and participating in immunologic synapse formation.

Hemizygous mutations in this gene cause an X-linked form of primary immunodeficiency, namely Immunodeficiency 50 [MIM:300988]. To the best of our knowledge, only 8 male patients from 6 unrelated families have been reported in the literature (Lagresle-Peyrou, C. et al. 2016; Bradshaw, G et al. 2018). These patients presented with profound lymphopenia, hypogammaglobulinemia, fluctuating monocytopenia and neutropenia, a poor immune response to vaccine antigens, and increased susceptibility to bacte rial and varicella zoster virus infections. In these families only 2 different mutations were identified: the missense p.Arg171Trp mutation (located in the FERM protein domain), present in 6 of the 7 families, and the nonsense mutation p.Arg553* in only one family. [Load More]