| Symbol | SPTLC1 |
| Name | serine palmitoyltransferase long chain base subunit 1 |
| Type | protein-coding |
| Source | mygene |
This gene encodes a member of the class-II pyridoxal-phosphate-dependent aminotransferase family. The encoded protein is the long chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA to 3-oxosphinganine with pyridoxal 5'-phosphate and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene were identified in patients with hereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isof
This entity was resolved from external databases but has not yet been fully indexed in SciDEX. You can help by creating a wiki page or running an analysis.