Mammalian Sterile 20-Like 1 (MST1) Deficiency
MST1/STK4 (OMIM: #614868)
Mammalian sterile 20-like 1 kinase (MST1, official gene name serine/threonine kinase 4, STK4), a member of the “sterile 20” family of proteins, is a cytosolic kinase that participates in a broad array of biological processes affecting immune function and hematopoiesis. It is activated upstream of other mitogen-activated kinases, in response to stress. The gene encoding MST1/STK4 is mapped to chromosome 20q13.12. As a major component of the Hippo pathway, MST1/STK4 regulates apoptosis and plays an important role in the cellular response to oxidative stress. Given that the Hippo pathway is key to the regulation of cell proliferation and survival, MST1/STK4 is a link in the signaling pathway that contributes to governing the self-renewal and differentiation of stem and progenitor cells (Torres-Bacete et al. 2015).
Consistent with the majority of T- and B-cell combined immunodeficiencies, MST1 is...
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