GENE NAME | FEZF1 |
CHROMOSOME | 7 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000128610 |
UNIPROT ACCESSION NUMBER | A0PJY2 |
GO MOLECULAR FUNCTION | ['RNA polymerase II cis-regulatory region sequence-specific DNA binding', 'protein binding', 'metal ion binding', 'DNA-binding transcription repressor activity, RNA polymerase II-specific', 'DNA-binding transcription factor activity'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
7 combinations linked to FEZF1 | OLI1275; OLI1336; OLI1296; OLI1293; OLI1575; OLI1299; OLI1274 |
6 variants linked to FEZF1 | FEZF1:c.1372C>T, p.Pro458Ser; FEZF1:c.722T>A, p.Ile241Asn; FEZF1:c.382A>C, p.Lys128Gln; FEZF1:c.253A>G, p.Ser85Gly; FEZF1:c.614C>T, p.Ala205Val; FEZF1:c.553T>C, p.Phe185Leu |
3 diseases linked to FEZF1 | Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome; Syndrome with 46,XY disorder of sex development |