Loss-of-function mutations in that gene cause primary systemic carnitine deficiency, and that genetic model is a large part of why the carnitine shuttle is as well characterised as it is
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The combination of NKG2A immune checkpoint suppression with LTX/siR-NPs significantly increased the presence of CD 8+ NKG2D + and NK1.1 + NKG2D + cells in tumor tissues, resulting in substantial tumor growth reduction and extended life in the treated animals [313]
Feldman et al., 2017