SPTLC2

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.

Full Name

Serine Palmitoyltransferase Long Chain Base Subunit 2

Function

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-SPTSSA complex shows a strong preference for C16-CoA substrate, while the SPTLC1-SPTLC2-SPTSSB complex displays a preference for C18-CoA substrate. Plays an important role in de novo sphyngolipid biosynthesis which is crucial for adipogenesis (By similarity).

Biological Process

Biological Process adipose tissue developmentISS:UniProtKB
Biological Process ceramide biosynthetic processManual Assertion Based On ExperimentIDA:MGI
Biological Process positive regulation of lipophagyManual Assertion Based On ExperimentIDA:MGI
Biological Process sphinganine biosynthetic processIEA:Ensembl
Biological Process sphingolipid biosynthetic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process sphingomyelin biosynthetic processIEA:Ensembl
Biological Process sphingosine biosynthetic processManual Assertion Based On ExperimentIDA:ComplexPortal

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Neuropathy, hereditary sensory and autonomic, 1C (HSAN1C):
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.

Topology

Helical: 67-87