SPTLC2

Chr 14AD

serine palmitoyltransferase long chain base subunit 2

Also known as: HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a

NCBI Gene: 9517 ENSG00000100596 UniProt: O15270 OMIM: 605713

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]

OMIM ResearchGenerating clinical summary…

ADLOEUF 0.391 OMIM phenotype

Clinical Summary— SPTLC2

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Gene-Disease Validity (ClinGen)

neuropathy, hereditary sensory and autonomic, type 1C · ADDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.78) — some intolerance to loss-of-function variants.

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