Harmonizome 3.0

benign familial infantile convulsions

erythrocytosis, autosomal recessive benign 2

Vertigo, benign recurrent, 2

telangiectasia, benign 1

Convulsions, benign familial infantile, 4

Benign familial infantile convulsions-2

Dyskeratosis, hereditary benign intraepithelial

Hypertension, essential, susceptibility to, 3

Hypertension, essential, susceptibility to, 5

Hypertension, essential, susceptibility to, 4

Hypertension, essential, susceptibility to, 7

Hypertension, essential, susceptibility to, 6

hypertension, essential, susceptibility to, 8

essential meiotic structure-specific endonuclease 1

This gene encodes a protein that complexes with methyl methanesulfonate-sensitive UV-sensitive 81 protein to form an endonuclease complex. The encoded protein interacts with specifc DNA structures including nicked Holliday junctions, 3'-flap structures and aberrant replication fork structures. This protein may be involved in repairing DNA damage and in maintaining genomic stability. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Oct 2009]

essential meiotic structure-specific endonuclease subunit 2

EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

Hypertension, essential, susceptibility to, 1

Hypertension, essential, susceptibility to, 2

essential tremor 2

Tremor, hereditary essential, 3