Oct 2, 2006 · CHD7 encodes a chromodomain protein that is involved in the ATP-dependent remodeling of chromatin. CHD7 binds to more than 10,000 sites in the mammalian genome and interacts with dozens of other genes. Features of CHD7-related disorders may be due to loss of ribosomal biogenesis or other mechanisms.

The CHD7 gene provides instructions for making a protein called chromodomain helicase DNA binding protein 7. This protein is found in many parts of the body before birth, including the eye, the inner ear, and the brain.

Mar 6, 2023 · CHARGE syndrome is an inherited disorder caused by a mutation in the DNA-binding protein-7 CHD7 gene. CHARGE syndrome is an acronym for coloboma, heart disease, atresia of the choanae, retarded growth and mental development, genital anomalies, and ear malformations and hearing loss.

Mar 30, 2025 · 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 Kallmann syndrome.

Chromodomain-helicase-DNA-binding protein 7 is an ATP-dependent 'chromatin' or 'nucleosome' remodeling factor [5] that in humans is encoded by the CHD7 gene. [6][7] CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. [8] . Mutations in CHD7 are associated with CHARGE syndrome. [9] .

A genetic mutation of the CHD7 gene causes CHARGE syndrome. The CHD7 gene gives your cells instructions to make a protein that packages your DNA into your chromosomes (chromatin) like wrapping a gift.

De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7.

Loss-of-function mutations in CHD7 are known to cause CHARGE syndrome, an autosomal-dominant malformation syndrome in which several organ systems, for example, the central nervous system, eye, ear, nose, and mediastinal organs, are variably involved.

Feb 9, 2025 · Familial CHARGE syndrome and the CHD7 gene: a recurrent missense mutation, intrafamilial recurrence and variability. Cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation.

HGNC Approved Gene Symbol: CHD7. Cytogenetic location: 8q12.2 Genomic coordinates (GRCh38) : 8:60,678,740-60,868,028 (from NCBI) CHD7 is a transcriptional regulator that binds to enhancer elements in the nucleoplasm. CHD7 also functions as a positive regulator of ribosomal RNA (rRNA) biogenesis in the nucleolus (summary by Zentner et al., 2010).