基因名:
Slfnl1
产品别名:
4933406A14Rik; Slfnl1; schlafen like 1; schlafen like 1; schlafen-like protein 1;
背景信息:
SPTLC1 (serine palmitoyltransferase 1), also known as LCB1, and SPTLC2 (serine palmitoyltransferase 2), also known as LCB2, together catalyze sphingolipid biosynthesis by converting L-serine and palmitoyl-CoA to 3-oxosphinganine, utilizing pyridoxal 5'-phosphate as a cofactor. Increases in transepidermal water loss triggers upregulation of serine palmitoyltransferase mRNA expression in humans. Deficiencies in wild type SPTLC1 and SPTLC2 can lead to hereditary sensory neuropathy, atopic eczema, and psoriasis