SPTLC2

Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a human gene.cite web | title = Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9517| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced variants encoding different isoforms have been identified.cite web | title = Entrez Gene: SPTLC2 serine palmitoyltransferase, long chain base subunit 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=9517| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Takeda J, Yano H, Eng S, "et al." |title=A molecular inventory of human pancreatic islets: sequence analysis of 1000 cDNA clones. |journal=Hum. Mol. Genet. |volume=2 |issue= 11 |pages= 1793–8 |year= 1994 |pmid= 7506601 |doi=
*cite journal | author=Hillier LD, Lennon G, Becker M, "et al." |title=Generation and analysis of 280,000 human expressed sequence tags. |journal=Genome Res. |volume=6 |issue= 9 |pages= 807–28 |year= 1997 |pmid= 8889549 |doi=
*cite journal | author=Nagiec MM, Lester RL, Dickson RC |title=Sphingolipid synthesis: identification and characterization of mammalian cDNAs encoding the Lcb2 subunit of serine palmitoyltransferase. |journal=Gene |volume=177 |issue= 1-2 |pages= 237–41 |year= 1996 |pmid= 8921873 |doi=
*cite journal | author=Weiss B, Stoffel W |title=Human and murine serine-palmitoyl-CoA transferase--cloning, expression and characterization of the key enzyme in sphingolipid synthesis. |journal=Eur. J. Biochem. |volume=249 |issue= 1 |pages= 239–47 |year= 1997 |pmid= 9363775 |doi=
*cite journal | author=Nagase T, Ishikawa K, Miyajima N, "et al." |title=Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 1 |pages= 31–9 |year= 1998 |pmid= 9628581 |doi=
*cite journal | author=Hanada K, Hara T, Nishijima M |title=Purification of the serine palmitoyltransferase complex responsible for sphingoid base synthesis by using affinity peptide chromatography techniques. |journal=J. Biol. Chem. |volume=275 |issue= 12 |pages= 8409–15 |year= 2000 |pmid= 10722674 |doi=
*cite journal | author=Dias Neto E, Correa RG, Verjovski-Almeida S, "et al." |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=
*cite journal | author=Dawkins JL, Brahmbhatt S, Auer-Grumbach M, "et al." |title=Exclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy. |journal=Neuromuscul. Disord. |volume=12 |issue= 7-8 |pages= 656–8 |year= 2002 |pmid= 12207934 |doi=
*cite journal | author=Stachowitz S, Alessandrini F, Abeck D, "et al." |title=Permeability barrier disruption increases the level of serine palmitoyltransferase in human epidermis. |journal=J. Invest. Dermatol. |volume=119 |issue= 5 |pages= 1048–52 |year= 2003 |pmid= 12445191 |doi= 10.1046/j.1523-1747.2002.19524.x
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Heilig R, Eckenberg R, Petit JL, "et al." |title=The DNA sequence and analysis of human chromosome 14. |journal=Nature |volume=421 |issue= 6923 |pages= 601–7 |year= 2003 |pmid= 12508121 |doi= 10.1038/nature01348
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Rual JF, Venkatesan K, Hao T, "et al." |title=Towards a proteome-scale map of the human protein-protein interaction network. |journal=Nature |volume=437 |issue= 7062 |pages= 1173–8 |year= 2005 |pmid= 16189514 |doi= 10.1038/nature04209
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
*cite journal | author=Chen M, Han G, Dietrich CR, "et al." |title=The essential nature of sphingolipids in plants as revealed by the functional identification and characterization of the Arabidopsis LCB1 subunit of serine palmitoyltransferase. |journal=Plant Cell |volume=18 |issue= 12 |pages= 3576–93 |year= 2007 |pmid= 17194770 |doi= 10.1105/tpc.105.040774
*cite journal | author=Hornemann T, Wei Y, von Eckardstein A |title=Is the mammalian serine palmitoyltransferase a high-molecular-mass complex? |journal=Biochem. J. |volume=405 |issue= 1 |pages= 157–64 |year= 2007 |pmid= 17331073 |doi= 10.1042/BJ20070025

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