Protein Name serine palmitoyltransferase long chain base subunit 1
Organism Homo sapiens
Gene ID 10558
Gene Symbol


UniProt O15269 (SPTC1_HUMAN), A0A024R277 (A0A024R277_HUMAN), Q6NUL7 (Q6NUL7_HUMAN)
Relationships Total Number of functionally related compound(s) : 46
Total Number of Articles : 74

serine palmitoyltransferase long chain base subunit 1

Gene Summary

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 isoforms have been identified. Pseudogenes of this gene have been defined on chromosomes 1, 6, 10, and 13. [provided by RefSeq, Jul 2013]

  • serine palmitoyltransferase 1
  • long chain base biosynthesis protein 1
  • serine C-palmitoyltransferase
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