Extended Data Fig. 7. Functional analysis of the SPTLC1 mutation disrupting the interface between the SPTLC S1 helix and ORMDL3.
(a to e) Sphingolipid contents from cells were measured as an indication of the SPT activity. SPTLC1 ΔS1 mutant is as active as wild type, but the regulation from ORMDL3 is considerably impaired. Representative results are shown (mean ± SD; n = 2). The experiment was repeated multiple times yielding similar results. Data are available as source data.