SPTLC1
Encyclopedia
Serine palmitoyltransferase, long chain base subunit 1, also known as SPTLC1, is a protein
which in humans is encoded by the SPTLC1 gene
.
Serine palmitoyltransferase
, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine
and palmitoyl CoA
to 3-oxosphinganine with pyridoxal 5'-phosphate 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. Alternatively spliced variants encoding different isoforms have been identified.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
which in humans is encoded by the SPTLC1 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
Serine palmitoyltransferase
Serine C-palmitoyltransferase
In enzymology, a serine C-palmitoyltransferase is an enzyme that catalyzes the chemical reaction:Thus, the two substrates of this enzyme are palmitoyl-CoA and L-serine, whereas its 3 products are CoA, 3-dehydro-D-sphinganine, and CO2...
, which consists of two different subunits, is the initial enzyme in sphingolipid biosynthesis. It converts L-serine
Serine
Serine is an amino acid with the formula HO2CCHCH2OH. It is one of the proteinogenic amino acids. By virtue of the hydroxyl group, serine is classified as a polar amino acid.-Occurrence and biosynthesis:...
and palmitoyl CoA
Palmitoyl CoA
Palmitoyl CoA is an acyl-CoA thioester used in the biosynthesis of sphingosine:...
to 3-oxosphinganine with pyridoxal 5'-phosphate 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. Alternatively spliced variants encoding different isoforms have been identified.