Details for Gene GLDC

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

Found any issues with the data on this page? Report this entry.