SPTLC2 Antibody – Rabbit Polyclonal

This gene encodes a long chain base subunit of serine palmitoyltransferase. Serine palmitoyltransferase, which consists of two different subunits, is the key enzyme in sphingolipid biosynthesis. It catalyzes the pyridoxal-5-prime-phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. [provided by RefSeq, Mar 2011]

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

Chromosomal Location of Human Ortholog: 14q24.3

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

Molecular Function: serine C-palmitoyltransferase activity; pyridoxal phosphate binding

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

Disease: Neuropathy, Hereditary Sensory And Autonomic, Type Ic