GEN1
Description
The GEN1 (GEN1 Holliday junction 5' flap endonuclease) is a protein-coding gene located on chromosome 2.
GEN1 is an endonuclease that resolves Holliday junctions (HJs), four-way DNA intermediates formed during homologous recombination and DNA repair, by introducing symmetrically related cuts across the junction point. This results in nicked duplex products that can be readily ligated, ensuring proper chromosome segregation. GEN1 cleaves HJs through a nick-and-counter-nick mechanism involving dual coordinated incisions. The first strand cleavage is rate-limiting, while the second strand cleavage is rapid. GEN1 is primarily monomeric, but dimerizes on the HJ, with the first nick occurring upon dimerization. It efficiently cleaves both single and double HJs within large recombination intermediates. GEN1 exhibits a weak sequence preference for incision between two G residues located within a T-rich region of DNA. It also possesses endonuclease activity on 5'-flap and replication fork (RF) DNA substrates.
GEN1 is also known as Gen.
Associated Diseases
- ovarian cancer
- hereditary neoplastic syndrome
- congenital anomaly of kidney and urinary tract
- multicystic dysplastic kidney
- Ochoa syndrome
- familial vesicoureteral reflux
- nephronophthisis
- congenital hydronephrosis
- congenital anomalies of kidney and urinary tract 1
- congenital primary megaureter
- renal hypoplasia
- vesicoureteral reflux 8
- renal dysplasia
