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 |