Serine Palmitoyltransferase 2 (SPTLC2) Mouse Recombinant Protein

SPTLC2: Serine palmitoyltransferase (SPT). The heterodimer formed with LCB1/SPTLC1 constitutes the catalytic core. The composition of the serine palmitoyltransferase (SPT) complex determines the substrate preference. The SPTLC1-SPTLC2-SSSPTA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SSSPTB complex displays a preference for C18-CoA substrate. Defects in SPTLC2 are the cause of hereditary sensory and autonomic neuropathy type 1C (HSAN1C). It is a form of hereditary sensory and autonomic neuropathy, a genetically and clinically heterogeneous group of disorders characterized by degeneration of dorsal root and autonomic ganglion cells, and by prominent sensory abnormalities with a variable degree of motor and autonomic dysfunction. The neurological phenotype is often complicated by severe infections, osteomyelitis, and amputations. HSAN1C symptoms include loss of touch and vibration in the feet, dysesthesia and severe panmodal sensory loss in the upper and lower limbs, distal lower limb sensory loss with ulceration and osteomyelitis, and distal muscle weakness. Belongs to the class-II pyridoxal-phosphate-dependent aminotransferase family.

Protein type: EC 2.3.1.50; Lipid Metabolism - sphingolipid; Transferase; Membrane protein, integral

Cellular Component: mitochondrion; membrane; endoplasmic reticulum; integral to membrane

Molecular Function: transferase activity; serine C-palmitoyltransferase activity; transferase activity, transferring acyl groups; catalytic activity; pyridoxal phosphate binding

Biological Process: sphingolipid metabolic process; metabolic process; sphingosine biosynthetic process; ceramide biosynthetic process; biosynthetic process; lipid metabolic process; sphinganine biosynthetic process; sphingomyelin biosynthetic process