CTPS1 gene

CTP synthase 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2014]

From UniProt:

This enzyme is involved in the de novo synthesis of CTP, a precursor of DNA, RNA and phospholipids. Catalyzes the ATP-dependent amination of UTP to CTP with either L-glutamine or ammonia as a source of nitrogen. This enzyme and its product, CTP, play a crucial role in the proliferation of activated lymphocytes and therefore in immunity.

From NCBI Gene:

  • Immunodeficiency 24

From UniProt:

Immunodeficiency 24 (IMD24): A life-threatening immunodeficiency, characterized by an impaired capacity of activated T and B cells to proliferate in response to antigen receptor-mediated activation. Patients have early onset of severe chronic viral infections, mostly caused by herpes viruses, including EBV and varicella zooster virus (VZV), and also suffer from recurrent encapsulated bacterial infections, a spectrum of infections typical of a combined deficiency of adaptive immunity. [MIM:615897]

Cytogenetic Location: 1p34.1, which is the short (p) arm of chromosome 1 at position 34.1

Molecular Location: base pairs 40,979,299 to 41,012,565 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1p34.1, which is the short (p) arm of chromosome 1 at position 34.1
  • CTPS
  • IMD24