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The SPTLC3 gene encodes an isoform of the third subunit of serine palmitoyltransferase (SPT; EC 2.3.1.50), which catalyzes the rate-limiting step of the de novo synthesis of sphingolipids (Hornemann et al., 2006 [PubMed 17023427]). SPT contains 2 main subunits: the common SPTLC1 subunit (MIM 605712) and either SPTLC2 (MIM 605713) or its isoform SPTLC2L (SPTLC3), depending on the tissue in which biosynthesis occurs (Hornemann et al., 2006 [PubMed 17023427]). There are also 2 highly related isoforms of a third subunit, SSSPTA (MIM 613540) and SSSPTB (MIM 610412), that confer acyl-CoA preference of the SPT enzyme and are essential for maximal enzyme activity (Han et al., 2009 [PubMed 19416851]).
Gene Name: | serine palmitoyltransferase, long chain base subunit 3 |
Synonyms: | SPTLC3, HLCB2b, LCB2B, LCB3, LCB 3, Serine palmitoyltransferase 3, SPT 3, SPT3, C20orf38, DJ718P11, DJ718P11.1, SPTLC2L |
Target Sequences: | NM_018327 NP_060797.2 Q9NUV7 |
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