GENE NAME | CTU2 |
CHROMOSOME | 16 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000174177 |
UNIPROT ACCESSION NUMBER | Q2VPK5 |
GO MOLECULAR FUNCTION | ['sulfurtransferase activity', 'tRNA binding', 'nucleotidyltransferase activity', 'protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | hsa04122; R-HSA-6782315; R-HSA-72306; R-HSA-8953854 |
3 combinations linked to CTU2 | OLI1574; OLI1510; OLI1522 |
3 variants linked to CTU2 | CTU2:c.710C>T, p.Aal237Val; CTU2:c.1127G>A, p.Arg376Gln; CTU2:c.1439C>T, p.Pro480Leu |
2 diseases linked to CTU2 | 46,XY disorder of sex development; Syndrome with 46,XY disorder of sex development |