Polyclonal Anti-SPTLC1

Price

200.00 USD

Size

100ug/vial

Reactivities

Hum

Format

Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3.

References

1. Dawkins, J. L., Hulme, D. J., Brahmbhatt, S. B., Auer-Grumbach, M., Nicholson, G. A.Mutations in \nSPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary \nsensory neuropathy type I.Nature Genet. 27: 309-312, 2001.\n2. McCampbell, A., Truong, D., Broom, D. C., Allchorne, A., Gable, K., Cutler, R. G., Mattson, M. P., \nWoolf, C. J., Frosch, M. P., Harmon, J. M., Dunn, T. M., Brown, R. H., Jr.Mutant SPTLC1 dominantly \ninhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.Hum. \nMolec. Genet. 14: 3507-3521, 2005.\n3. Verhoeven, K., Coen, K., De Vriendt, E., Jacobs, A., Van Gerwen, V., Smouts, I., Pou-Serradell, A., \nMartin, J.-J., Timmerman, V., De Jonghe, P.SPTLC1 mutation in twin sisters with hereditary sensory \nneuropathy type I.Neurology 62: 1001-1002, 2004.

Storage Temp

At -20 degree C for one year. After reconstitution, at 4 degree C for one month. It can also be aliquotted and stored frozen at -20 degree C for a longer time.Avoid repeated freezing and thawing.

Scientific Background

SPTLC1(Serine palmitoyltransferase, long chain base subunit 1), also known as SPT1, LCB1, is a \nprotein which in humans is encoded by the SPTLC1 gene. Dawkins et al. (2001)noted that the SPTLC1 \ngene maps to chromosome 9q22.1-q22.3. Serine palmitoyltransferase, which consists of two different \nsubunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine and palmitoyl CoA to \n3-oxosphinganine with pyridoxal 5'-phosphate as a cofactor. The product of this gene is the long chain \nbase subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with \nhereditary sensory neuropathy type 1. Alternatively spliced variants encoding different isoforms have \nbeen identified.