SPTLC1 (Long chain base biosynthesis protein 1)

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.\n\nUniProt Number:\nO15269\n\nGene ID:\nSPTLC1\n\nApplications:\nSuitable for use in Western Blot and Immunohistochemistry (Paraffin).\n\nRecommended Dilution:\nOptimal dilutions to be determined by the researcher.\n\nStorage and Handling:\nStore at -20?C for one year. After reconstitution, store at 4?C for one month. Can also be aliquoted and stored frozen at -20?C for long term.\nAvoid repeated freezing and thawing. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

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SPECIFICATIONS

Catalog Number

145216

Size

100ug

Applications

IHC, WB

Hosts

Rabbit

Reactivities

Hum

Form

Supplied as a lyophilized powder. Each vial contains 5mg BSA, 0.9mg NaCl, 0.2mg Na2HPO4, 0.05mg Thimerosal, 0.05mg NaN3. Reconstitution: Add 0.2ml of distilled water will yield a concentration of 500ug/ml.

P Type

Pab

Purity

Purified by immunoaffinity chromatography.

Isotype

IgG

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.

Additional Info

Recognizes human SPTLC1. No crossreactivity with other proteins.