rs2539045620
This variant is located in the FPGS gene.
▶ClinVar annotation
About FPGS
This gene encodes the folylpolyglutamate synthetase enzyme. This enzyme has a central role in establishing and maintaining both cytosolic and mitochondrial folylpolyglutamate concentrations and, therefore, is essential for folate homeostasis and the survival of proliferating cells. This enzyme catalyzes the ATP-dependent addition of glutamate moieties to folate and folate derivatives. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Jan 2014]
View all FPGS variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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