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SPTLC2

Synonyms
HSN1C, LCB2, LCB2A, NSAN1C, SPT2, hLCB2a
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
650
Likely benign
995
Benign
1,650

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SPTLC2 gene.

Phenotype class
Patients in 3billion (%)

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