Details for Gene CTH

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

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