Aliases for CHD7 Gene
External Ids for CHD7 Gene
Previous HGNC Symbols for CHD7 Gene
Previous GeneCards Identifiers for CHD7 Gene
This gene encodes a protein that contains several helicase family domains. Mutations in this gene have been found in some patients with the CHARGE syndrome. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
GeneCards Summary for CHD7 Gene
CHD7 (Chromodomain Helicase DNA Binding Protein 7) is a Protein Coding gene. Diseases associated with CHD7 include Charge Syndrome and Hypogonadotropic Hypogonadism 5 With Or Without Anosmia. Among its related pathways are Noncanonical Wnt signaling pathway and Chromatin Regulation / Acetylation. Gene Ontology (GO) annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is CHD9.
UniProtKB/Swiss-Prot Summary for CHD7 Gene
Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.