Presku: | AAP48652 |
Size: | 100 ug |
Weight: | 63kDa |
Gene: | 9517 |
Format: | Lyophilized powder |
Target: | SPTLC2 is a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I.This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified. PRIMARYREFSEQ_SPAN PRIMARY_IDENTIFIER PRIMARY_SPAN COMP 1-973 AB011098.1 1-973 974-1108 BQ338973.1 306-440 1109-3679 AB011098.1 1109-3679 3680-4578 AB011098.1 3682-4580 4579-4876 BG024616.1 326-623 4877-6812 AB011098.1 4879-6814 6813-7189 W24363.1 55-431 7190-7250 BM992457.1 1-61 c |
Alternative names: | KIAA0526; LCB2; SPT2 |