The ruvbl2 gene encodes an aaa+ atpase protein that functions as part of large chromatin remodeling complexes including ino80 and swr1, which are involved in histone variant exchange (e.g., h2a.z depos...[+]

The ruvbl2 gene encodes an aaa+ atpase protein that functions as part of large chromatin remodeling complexes including ino80 and swr1, which are involved in histone variant exchange (e.g., h2a.z deposition), dna damage repair, and transcriptional regulation. the protein is nuclear localized. during development, its expression is documented in the brain, eye, neural tube, and branchial arches. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD