Details for Gene APEX1

GENE NAME APEX1
CHROMOSOME 14
ENSEMBL ID None
ENTREZ ID ENSG00000100823
UNIPROT ACCESSION NUMBER P27695
GO MOLECULAR FUNCTION ["3'-5' exonuclease activity", 'transcription corepressor activity', 'chromatin DNA binding', 'DNA-(abasic site) binding', "double-stranded DNA 3'-5' exodeoxyribonuclease activity", 'RNA binding', 'RNA-DNA hybrid ribonuclease activity', 'phosphoric diester hydrolase activity', 'site-specific endodeoxyribonuclease activity, specific for altered base', 'DNA-(apurinic or apyrimidinic site) endonuclease activity', 'endonuclease activity', 'double-stranded DNA exodeoxyribonuclease activity', "3'-5'-exodeoxyribonuclease activity", 'protein-containing complex binding', "phosphodiesterase activity, acting on 3'-phosphoglycolate-terminated DNA strands", 'endodeoxyribonuclease activity', 'NF-kappaB binding', 'double-stranded telomeric DNA binding', 'metal ion binding', 'DNA binding', 'class II DNA-(apurinic or apyrimidinic site) endonuclease activity', 'oxidoreductase activity', 'uracil DNA N-glycosylase activity', 'damaged DNA binding', 'protein binding', 'transcription coactivator activity', 'phosphodiesterase I activity']
ESSENTIAL IN MOUSE Essential
PATHWAYS hsa03410; R-HSA-110357; R-HSA-110362; R-HSA-110373; R-HSA-110381; R-HSA-5651801; R-HSA-73884; R-HSA-73894; R-HSA-73930; R-HSA-73933; hsa03410
2 combinations linked to APEX1 OLI968; OLI1687
2 variants linked to APEX1 APEX1:c*2A>T, ; APEX1:c.662G>A, p.Arg221His
2 diseases linked to APEX1 Amyotrophic lateral sclerosis; Non-Syndromic genetic keratoconus

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