SPTSSB
Description
The SPTSSB (serine palmitoyltransferase small subunit B) is a protein-coding gene located on chromosome 3.
SPTSSB is a subunit of the serine palmitoyltransferase (SPT) enzyme complex, which plays a crucial role in the initial and rate-limiting step of sphingolipid biosynthesis. SPT catalyzes the condensation of L-serine and activated acyl-CoA, primarily palmitoyl-CoA, to produce long-chain bases. The SPT complex comprises SPTLC1, SPTLC2 or SPTLC3, and SPTSSA or SPTSSB. While SPTLC1 and SPTLC2/SPTLC3 form the catalytic core of the enzyme, SPTSSB influences substrate specificity, particularly favoring longer acyl-CoAs. The SPTLC1-SPTLC2-SPTSSB complex exhibits a strong preference for C18-CoA substrate, while the SPTLC1-SPTLC3-SPTSSB isozyme demonstrates versatility in utilizing a wider range of acyl-CoAs.
SPTSSB is also known as ADMP, C3orf57, SSSPTB.
Associated Diseases
- Parkinson disease
- schizophrenia
- X-linked retinal dysplasia
- retinitis pigmentosa
- severe early-childhood-onset retinal dystrophy
- reticular dystrophy of the retinal pigment epithelium
