Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
which in humans is encoded by the ''SPTLC1''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
, which consists of two different subunits, is the initial enzyme in
sphingolipid
Sphingolipids are a class of lipids containing a backbone of sphingoid bases, a set of aliphatic amino alcohols that includes sphingosine. They were discovered in brain extracts in the 1870s and were named after the mythological sphinx because o ...
biosynthesis. It converts L-
serine and
palmitoyl CoA to 3-oxosphinganine with
pyridoxal 5'-phosphate
Pyridoxal phosphate (PLP, pyridoxal 5'-phosphate, P5P), the active form of vitamin B6, is a coenzyme in a variety of enzymatic reactions. The International Union of Biochemistry and Molecular Biology has catalogued more than 140 PLP-dependent ac ...
as a cofactor. The product of this gene is the long chain base subunit 1 of serine palmitoyltransferase. Mutations in this gene were identified in patients with
hereditary sensory neuropathy type 1, macular disease, and juvenile amyotrophic lateral sclerosis.
Alternatively spliced variants encoding different isoforms have been identified.
References
Further reading
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
*
External links
GeneReviews/NIH/NCBI/UW entry on Hereditary Sensory Neuropathy Type I
{{protein-stub