CTPS2 Chromosome X

CTP synthase 2
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Gene Info
Gene Group
"Glutamine amidotransferase class 1 domain containing|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
Xp22.2
Ensembl
ENSG00000047230
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS148995160 Health Risk Conflicting classifications of pathogenicity
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