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145216 Rabbit Anti-SPTLC1 (Long chain base biosynthesis protein 1)

Specifications
References
Clone Type
Polyclonal
Host
Rabbit
Source
Human
Swiss Prot
O15269
Isotype
IgG
Grade
Affinity Purified
Applications
IHC WB
Crossreactivity
Hu
Gene ID
SPTLC1
Shipping Temp
Blue Ice
Storage Temp
-20°C

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.

UniProt Number
O15269
Gene ID
SPTLC1
Applications
Suitable for use in Western Blot and Immunohistochemistry. Other applications not tested.
Recommended Dilution
Immunohistochemistry: paraffin Optimal dilutions to be determined by the researcher.
Storage and Stability
Lyophilized and reconstituted products are stable for 12 months after receipt at -20°C. Reconstitute with sterile ddH2O. Aliquot to avoid repeated freezing and thawing. Store at -20°C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.
Immunogen
A synthetic peptide corresponding to a sequence in the middle region of human SPTLC1.
Form
Supplied as a lyophilized powder from PBS, 5% BSA, 0.05% Thimerosal, 0.05% sodium azide. Reconstitutie with 200ul sterile ddH2O.
Purity
Purified by immunoaffinity chromatography.
Specificity
Recognizes human SPTLC1. No crossreactivity with other proteins.
References
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.
USBio References
No references available
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