APEX1, Official Symbol APEX1provided by HGNC Official Full Name apurinic/apyrimidinic endodeoxyribonuclease 1provided by HGNC Primary source HGNC:HGNC:587 See related Ensembl:ENSG00000100823 MIM:107748; AllianceGenome:HGNC:587 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as APE; APX; APE1; APEN; APEX; HAP1; REF1 Summary The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019] Expression Ubiquitous expression in ovary (RPKM 68.7), endometrium (RPKM 60.6) and 25 other tissues See more Orthologs mouse all