GENE NAME | GLDC |
CHROMOSOME | 9 |
ENSEMBL ID | ENSG00000178445 |
ENTREZ ID | 2731 |
UNIPROT ACCESSION NUMBER | P23378 |
GO MOLECULAR FUNCTION | pyridoxal phosphate binding; glycine binding; pyridoxal binding; glycine dehydrogenase (decarboxylating) activity; lyase activity; protein homodimerization activity; electron transfer activity |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa00630; hsa01200; hsa00260; R-HSA-6783984; R-HSA-1430728; hsa01100; R-HSA-389661; R-HSA-71291 |
5 combinations linked to GLDC | OLI734; OLI709; OLI720; OLI740; OLI760 |
4 variants linked to GLDC | GLDC:c.2203G>T, p.Val735Leu; GLDC:c.2852C>A, p.Ser951Tyr; GLDC:c.835C>A, p.Leu279Ile; GLDC:c.2113G>A, p.Val705Met |
2 diseases linked to GLDC | Isolated anencephaly; Craniorachischisis |