CTPS1 encodes an enzyme responsible for the catalytic conversion of UTP (uridine triphosphate) to CTP (cytidine triphospate). This reaction is an important step in the biosynthesis of phospholipids and nucleic acids. Activity of this proten is important in the immune system, and loss of function of this gene has been associated with immunodeficiency. Alternative splicing results in multiple transcript variants.CTPS1 (CTP Synthase 1) is a Protein Coding gene. Diseases associated with CTPS1 include Immunodeficiency 24 and Sleeping Sickness. Among its related pathways are Purine metabolism (KEGG) and superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis. GO annotations related to this gene include hydrolase activity and CTP synthase activity. An important paralog of this gene is CTPS2.