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, Nov 2010],
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Function:
Catalytic activity:Palmitoyl-CoA + L-serine = CoA + 3-dehydro-D-sphinganine + CO(2).,cofactor:Pyridoxal phosphate.,pathway:Lipid metabolism; sphingolipid metabolism.,sequence Caution:Contaminating sequence. Potential poly-A sequence.,similarity:Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.,subunit:SPTLC1, SPTLC2 and SPTLC3 may encode subunits of the enzyme.,tissue specificity:Expressed in most tissues, except peripheral blood cells and bone marrow, with highest levels in heart, kidney, liver, uterus and skin.,
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Cellular Localization:
Endoplasmic reticulum membrane ; Single-pass membrane protein .
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Tissue Expression:
Expressed in most tissues, except peripheral blood cells and bone marrow, with highest levels in heart, kidney, liver, uterus and skin.