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. [provided by RefSeq, Jul 2008]
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 scoliosis, idiopathic 3. Among its related pathways are Chromatin Regulation / Acetylation and Noncanonical Wnt signaling pathway. GO annotations related to this gene include chromatin binding and helicase activity. An important paralog of this gene is CHD1.
UniProtKB/Swiss-Prot for CHD7 Gene
Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.