GENE NAME | CTH |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000116761 |
ENTREZ ID | 1491 |
UNIPROT ACCESSION NUMBER | P32929 |
GO MOLECULAR FUNCTION | pyridoxal phosphate binding; protein binding; L-cystine L-cysteine-lyase (deaminating); catalytic activity; cystathionine gamma-lyase activity; carbon-sulfur lyase activity; calmodulin binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1614635; hsa01230; R-HSA-1430728; R-HSA-2408508; hsa01100; R-HSA-1614558; R-HSA-71291; hsa00450; hsa00270; R-HSA-2408522; hsa00260; R-HSA-1614603 |
1 combination linked to CTH | OLI718 |
1 variant linked to CTH | CTH:c.200C>T, p.Thr67Ile |
1 disease linked to CTH | Isolated anencephaly |