The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes that play a role in many cell functions. The SPT enzyme initiates the first step of sphingolipid production, in which the molecules serine and palmitoyl CoA combine to form a molecule called ketodihydrosphingosine. Additional chemical reactions convert ketodihydrosphingosine into various types of sphingolipids. Within the cell, the SPT enzyme is mainly found on the endoplasmic reticulum, which is a structure involved in protein processing and transport.
Other Names
hLCB1; LBC1; LCB1; long chain base biosynthesis protein 1; serine C-palmitoyltransferase; serine palmitoyltransferase subunit 1; serine palmitoyltransferase, long chain base subunit 1; serine-palmitoyl-CoA transferase 1; SPT1; SPTC1_HUMAN; SPTI
Related Genetics Topics
- Charcot-Marie-Tooth disease — MedlinePlus Genetics
- Hereditary sensory neuropathy type IA — MedlinePlus Genetics
Identifiers
- NCBI Gene: 10558
- OMIM: 605712
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
