| Entrez gene ID | | 55304 |
|
| Official gene symbol | | SPTLC3 |
|
| Full name | | serine palmitoyltransferase, long chain base subunit 3 |
|
| Aliases | | ,C20orf38,FLJ11112,FLJ90790,LCB3,SPT3,SPTLC2L,dJ718P11,dJ718P11.1, |
|
| Gene summary | | 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]).[supplied by OMIM] |
|
| Location | | Chromosome: 20 Locus: 20p12.1 |
|
| Gene position | | 12989627 - 13147411 Map Viewer |
|
| Gene orientation | | plus |
|
| Gene size | | 157785 bp |
|
| Gene sequence |
| |
|
| OMIM ID | | 611120 |
|
|
|
