[HTML][HTML] A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity
K Gable, SD Gupta, G Han, S Niranjanakumari… - Journal of Biological …, 2010 - ASBMB
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 palmitoyl-CoA. Mutant heterodimeric SPT is catalytically inactive. However,
mutant heterotrimeric SPT has∼ 10–20% of wild-type activity and supports growth of yeast …
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 palmitoyl-CoA. Mutant heterodimeric SPT is catalytically inactive. However,
mutant heterotrimeric SPT has∼ 10–20% of wild-type activity and supports growth of yeast …