Immunohistochemical staining (Formalin-fixed paraffin-embedded sections) of human breast with SPTLC1 polyclonal antibody (Cat # PAB30437) shows moderate cytoplasmic positivity in glandular cells at 1:50-1:200 dilution.
Serine palmitoyltransferase, which consists of two different subunits, is the key 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. [provided by RefSeq
OTTHUMP00000022810,OTTHUMP00000022811,long chain base biosynthesis protein 1,serine C-palmitoyltransferase,serine palmitoyltransferase subunit 1,serine-palmitoyl-CoA transferase 1