Gene: APEX1

Alternate names for this Gene: APE|APE1|APEN|APEX|APX|HAP1|REF1

Gene 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: apurinic/apyrimidinic endodeoxyribonuclease 1

Type of Gene: protein-coding

Gene: OSGEP

Alternate names for this Gene: GAMOS3|GCPL1|KAE1|OSGEP1|PRSMG1|TCS3

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q11.2

Description of this Gene: O-sialoglycoprotein endopeptidase

Type of Gene: protein-coding

rs1555331969 in APEX1;OSGEP gene and GALLOWAY-MOWAT SYNDROME 3 PMID 28805828 2017 Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.

PMID 28272532 2017 tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy.