Gene: CTPS1

Alternate names for this Gene: CTPS|GATD5|IMD24

Gene Summary: This gene 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1p34.2

Description of this Gene: CTP synthase 1

Type of Gene: protein-coding

rs61780435 in CTPS1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12408576 in CTPS1 gene and Bone Density PMID 30690781 2019 Joint Association Analysis Identified 18 New Loci for Bone Mineral Density.

rs145092287 in CTPS1 gene and IMMUNODEFICIENCY 24 PMID 27638562 2016 CTP Synthase 1 Deficiency in Successfully Transplanted Siblings with Combined Immune Deficiency and Chronic Active EBV Infection.

PMID 24870241 2014 CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.