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Article

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

The Journal of biological chemistry - 23 Jul 2010

Gable Kenneth, Gupta Sita D, Han Gongshe, Niranjanakumari Somashekarappa, Harmon Jeffrey M, Dunn Teresa M

Abstract excerpt

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...

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Identifiers

PMID: 20504773
DOI: 10.1074/jbc.M110.122259
PMCID: PMC2906276

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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