NCIt definition : Human CTPS1 wild-type allele is located in the vicinity of 1p34.2 and is approximately
33 kb in length. This allele, which encodes CTP synthase 1 protein, plays a role in
the synthesis of cytidine triphosphate, which is a precursor for phospholipids and
nucleic acids. Mutation of the gene is associated with immunodeficiency 24.;