SPTLC2
Chr 14ADserine palmitoyltransferase long chain base subunit 2
Also known as: HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a
The SPTLC2 protein forms the catalytic core of serine palmitoyltransferase, the rate-limiting enzyme in sphingolipid biosynthesis that condenses L-serine with palmitoyl-CoA to generate long-chain bases. Mutations cause hereditary sensory and autonomic neuropathy type IC, an autosomal dominant peripheral neuropathy affecting sensory and autonomic nerve function. This gene is highly constrained against loss-of-function variants (LOEUF 0.39), indicating intolerance to protein-disrupting mutations.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SPTLC2 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools