The chd1 gene encodes an atp-dependent chromatin remodeling protein. it is a member of the snf2-like family of helicase/atpases. this nuclear-localized protein functions to regulate gene expression by ...[+]

The chd1 gene encodes an atp-dependent chromatin remodeling protein. it is a member of the snf2-like family of helicase/atpases. this nuclear-localized protein functions to regulate gene expression by altering nucleosome positioning on DNA. its activity is involved in early embryonic development, with roles in neural tube formation and eye development, including patterning of the retina and optic cup. it interacts with other chromatin-associated complexes to modulate transcriptional accessibility during gastrulation and neurulation. [-]

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