SPTLC1

Serine palmitoyltransferase, long chain base subunit 1
Identifiers
2.3.1.50
Orthologs
SpeciesHumanMouse

Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein which in humans is encoded by the SPTLC1 gene.[1][2]

Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl CoA to 3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have been identified.[1]

References

Further reading

External links

  • GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy Type I