A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity.


The autosomal dominant peripheral sensory neuropathy HSAN1 results from mutations in the LCB1 subunit of serine palmitoyltransferase (SPT). Serum from patients and transgenic mice expressing a disease-causing mutation (C133W) contain elevated levels of 1-deoxysphinganine (1-deoxySa), which presumably arise from inappropriate condensation of alanine with… (More)
DOI: 10.1074/jbc.M110.122259


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