Anti-SPTLC1 Antibody Picoband® Fluoro594 Conjugated

SPTLC1 (Serine palmitoyltransferase, long chain base subunit 1), also known as SPT1, LCB1, is a protein which in humans is encoded by the SPTLC1 gene. Dawkins et al. (2001) noted that the SPTLC1 gene maps to chromosome 9q22.1-q22.3. Serine palmitoyltransferase, which consists of two different subunits, is the initial 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.

Lipid Metabolism, Lipids/Lipoproteins, Metabolic Signaling Pathway, Metabolic Signaling Pathways, Metabolism, Metabolism of Lipids and Lipoproteins, Neurodegenerative Disease, Neurology Process, Neuroscience, Pathways and Processes, Signal Transduction

Serine palmitoyltransferase (SPT) . The heterodimer formed with SPTLC2 or SPTLC3 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC3-SPTSSA isozyme uses both C14-CoA and C16-CoA as substrates, with a slight preference for C14-CoA. The SPTLC1- SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme displays an ability to use a broader range of acyl-CoAs, without apparent preference. .

1. Dawkins, J. L., Hulme, D. J., Brahmbhatt, S. B., Auer-Grumbach, M., Nicholson, G. A.Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.Nature Genet. 27: 309-312, 2001. 2. McCampbell, A., Truong, D., Broom, D. C., Allchorne, A., Gable, K., Cutler, R. G., Mattson, M. P., Woolf, C. J., Frosch, M. P., Harmon, J. M., Dunn, T. M., Brown, R. H., Jr.Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.Hum. Molec. Genet. 14: 3507-3521, 2005. 3. Verhoeven, K., Coen, K., De Vriendt, E., Jacobs, A., Van Gerwen, V., Smouts, I., Pou-Serradell, A., Martin, J.-J., Timmerman, V., De Jonghe, P.SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I.Neurology 62: 1001-1002, 2004.