Details for Gene GART

GENE NAME GART
CHROMOSOME 21
ENSEMBL ID ENSG00000159131
ENTREZ ID 2618
UNIPROT ACCESSION NUMBER P22102
GO MOLECULAR FUNCTION phosphoribosylglycinamide formyltransferase activity; transferase activity; nucleotide binding; ligase activity; catalytic activity; phosphoribosylformylglycinamidine cyclo-ligase activity; phosphoribosylamine-glycine ligase activity; metal ion binding
ESSENTIAL IN MOUSE None
PATHWAYS R-HSA-73817; hsa01100; hsa01523; R-HSA-15869; R-HSA-8956320; R-HSA-1430728; hsa00670; hsa00230
2 combinations linked to GART OLI742; OLI725
2 variants linked to GART GART:c.2212G>C, p.Val738Leu; GART:c.1730T>C, p.Met577Thr
1 disease linked to GART Isolated anencephaly

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