[HTML][HTML] Mutations in the yeast LCB1 and LCB2Genes, including those corresponding to the hereditary sensory neuropathy type I mutations, dominantly inactivate …

K Gable, G Han, E Monaghan, D Bacikova… - Journal of Biological …, 2002 - ASBMB
It was recently demonstrated that mutations in the human SPTLC1 gene, encoding the
Lcb1p subunit of serine palmitoyltransferase (SPT), cause hereditary sensory neuropathy
type I (1, 2). As a member of the subfamily of pyridoxal 5′-phosphate enzymes known as
the α-oxoamine synthases, serine palmitoyltransferase catalyzes the committed step of
sphingolipid synthesis. The residues that are mutated to cause hereditary sensory
neuropathy type I reside in a highly conserved region of Lcb1p that is predicted to be a …