Presku: | AAP46721 |
Size: | 100 ug |
Weight: | 53kDa |
Gene: | 10558 |
Format: | Lyophilized powder |
Target: | 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. SPTLC1 is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in SPTLC1 gene were identified in patients with hereditary sensory neuropathy type 1.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. |
Alternative names: | HSAN; HSAN1; HSN1; LBC1; LCB1; MGC14645; SPT1; SPTI |