CTPS1 Chromosome 1
CTP synthase 1
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What This Gene Does
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]
Gene Info
Gene Group
Glutamine amidotransferase class 1 domain containing
Locus Type
gene with protein product
Location
1p34.2
Ensembl
ENSG00000171793
Associated Conditions (3)
Combined immunodeficiency due to CTPS1 deficiency
Papillary renal cell carcinoma type 1
Ovarian serous cystadenocarcinoma
Key Variants
RS139322260
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency
Health Risk
RS201674363
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency
Health Risk
RS768930904
Conflicting classifications of pathogenicity
Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency
Health Risk
RS145092287
Pathogenic
Combined immunodeficiency due to CTPS1 deficiency, Papillary renal cell carcinoma type 1, Ovarian serous cystadenocarcinoma
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139322260 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency |
| RS201674363 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency |
| RS768930904 | Health Risk | Conflicting classifications of pathogenicity | Combined immunodeficiency due to CTPS1 deficiency, Combined immunodeficiency due to CTPS1 deficiency |
| RS145092287 | Health Risk | Pathogenic | Combined immunodeficiency due to CTPS1 deficiency, Papillary renal cell carcinoma type 1, Ovarian serous cystadenocarcinoma |