CTPS1 CTP synthase 1
Gene ID: 1503, updated on 29-Oct-2024Gene type: protein coding
Also known as: CTPS; GATD5; IMD24; GATD5A
- See all available tests in GTR for this gene
- Go to complete Gene record for CTPS1
- Go to Variation Viewer for CTPS1 variants
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. [provided by RefSeq, Jul 2014]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Severe combined immunodeficiency due to CTPS1 deficiency | See labs |
Genomic context
- Location:
- 1p34.2
- Sequence:
- Chromosome: 1; NC_000001.11 (40979696..41012565)
- Total number of exons:
- 22
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CTPS1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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