Home > Gene Browser > SPTLC3

SPTLC3

Synonyms
C20orf38, LCB 3, LCB2B, LCB3, SPT 3, SPT3, SPTLC2L, dJ718P11, dJ718P11.1, hLCB2b
External resources
Summary
This gene encodes a subunit of the serine palmitoyltransferase complex which catalyzes the rate-limiting step in sphingolipid biosynthesis. This subunit metabolizes lauroyl- and myristoyl-CoA and generates C14 and C16-sphingoid bases.

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
2,485
Likely benign
2,345
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SPTLC3 gene.

Phenotype class
Patients in 3billion (%)

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