Details for Gene FEZF1

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; OLI1299; OLI1575; 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

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