Background: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.
仕様
Synonyms:HSAN,HSAN1,HSN1,LBC1,LCB 1,LCB1,Long chain base biosynthesis protein 1,MGC14645,Serine C palmitoyltransferase,Serine palmitoyl CoA transferase 1,Serine palmitoyltransferase 1,Serine palmitoyltransferase long chain base subunit 1,Serine palmitoyltransferase subunit 1,Serine-palmitoyl-CoA transferase 1,SPT 1,SPT1,SPTC1,SPTI,SPTLC 1,SPTLC1
Host:Rabbit
Reactivity:Human,Mouse,Rat
Applications:WB,IHC
Concentration:1mg/ml
Immunogen:Recombinant protein of human SPTLC1
Purification Method:Affinity purification
Clonality:Polyclonal
Conjugation:Unconjugated
Buffer:Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Dilution:WB1:500 - 1:2000 IHC1:50 - 1:200
Gene_ID(human):10558
Swissprot:O15269
Isotype:IgG
Research Areas:Cancer, Cardiovascular, Metabolism, Neuroscience, Signal transduction