The SPTLC1 gene, located on chromosome 9q22.31, encodes a member of the class II pyridoxal phosphate-dependent aminotransferase family. The encoded protein is the long-chain base subunit 1 of serine palmitoyltransferase. Serine palmitoyltransferase converts L-serine and palmitoyl-CoA with pyridoxal-5'-phosphate to 3-oxosphinganine and is the key enzyme in sphingolipid biosynthesis. Mutations in this gene are associated with the clinical picture of hereditary sensory neuropathy type 1(acrosteopathy ulcero-mutilans familiaris type I). Alternatively spliced variants encoding different isoforms have been identified.
SPTLC1 Gene
DefinitionThis section has been translated automatically.
General informationThis section has been translated automatically.
Serine palmitoyltransferase (SPT) consists of a catalytic heterodimeric complex (serine palmitoyltransferase (SPT) complex) formed with SPTLC2 or SPTLC3. The composition of the serine palmitoyltransferase (SPT) complex determines substrate preference.
For example, the SPTLC1-SPTLC2-SPTSSA complex shows a strong preference for C16 CoA substrate.
The SPTLC1-SPTLC3-SPTSSA isoenzyme shows a preference for both C14-CoA and C16-CoA .
The SPTLC1-SPTLC2-SPTSSB complex shows a strong preference for C18-CoA substrate.
The SPTLC1-SPTLC3-SPTSSB isoenzyme shows a broader range of acyl-CoAs with no obvious preference.
The serine palmitoyltransferase complex is essentialfor adipocyte viability and metabolic homeostasis.
LiteratureThis section has been translated automatically.
- Auer-Grumbach M (2004) Hereditary sensory neuropathies. Drugs Today (Barc) 40:385-394.
- Johnson JO et al (2012) Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis. JAMA Neurol 78:1236-1248.