SPTLC2 Gene

The SPTLC2 gene (Serine Palmitoyltransferase Long Chain Base Subunit 2) is a protein-coding gene located on chromosome 14q24.3. The gene encodes a long chain base subunit of serine palmitoyltransferase. This transferase consists of two distinct subunits. The enzyme is the key enzyme in sphingolipid biosynthesis.

Diseases associated with SPTLC2 include Hereditary Sensory and Autonomic Neuropathy Type II and Hereditary Sensory and Autonomic Neuropathy Type I.

Metabolic pathways affected include sphingolipid metabolism (REACTOME) and sphingolipid metabolism. An important paralog of this gene is SPTLC3.

Serine palmitoyltransferase catalyzes the pyridoxal-5-prime phosphate-dependent condensation of L-serine and palmitoyl-CoA to 3-oxosphinganine. The heterodimer formed with LCB1/SPTLC1 forms the catalytic core of the enzyme complex. The composition of the serine palmitoyltransferase (SPT) complex determines substrate preference.

The SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16-CoA substrate.

The SPTLC1-SPTLC2-SPTSSB complex shows a preference for C18 CoA substrate.

The enyzme complex plays an important role in de novo sphyngolipid biosynthesis, which is critical for adipogenesis.

1. Suriyanarayanan S et al (2016) The Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy. Neuromolecular Med 18:81-90