Serine palmitoyltransferase, long chain base subunit 2, also known as SPTLC2, is a protein

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 SPTLC2 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...

.

This gene encodes a long chain base subunit of 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...

. Serine palmitoyltransferase, which consists of two different subunits, is the initial enzyme in sphingolipid

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 for the mythological Sphinx because of their enigmatic nature. These compounds play...

 biosynthesis. It catalyzes the pyridoxal 5'-phosphate dependent condensation of 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. Mutations in this gene were identified in patients with hereditary sensory neuropathy type I. Alternatively spliced

Alternative splicing

Alternative splicing is a process by which the exons of the RNA produced by transcription of a gene are reconnected in multiple ways during RNA splicing...

 variants encoding different isoforms

Protein isoform

A protein isoform is any of several different forms of the same protein. Different forms of a protein may be produced from related genes, or may arise from the same gene by alternative splicing. A large number of isoforms are caused by single-nucleotide polymorphisms or SNPs, small genetic...

have been identified.

Further reading