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]

2006年10月2日 · 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.

2024年12月24日 · 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 Chromatin Regulation / Acetylation and Kallmann syndrome.

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.

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.

Welcome to the open-access database on CHD7 mutations. The CHD7 mutation database contains anonymised data on both published and unpublished CHD7 variations and phenotype. The CHD7 mutation database will be regularly updated with data from new publications and unpublished data.

Finally, we give updated recommendations for clinical surveillance of patients with a CHD7 mutation, based on our exploration of the phenotypic spectrum and on our experience in a multidisciplinary outpatient clinic for CHARGE syndrome.

2022年9月29日 · CHD7 disorder is an autosomal dominant disorder typically caused by a de novo pathogenic variant. In rare instances, an individual with <i>CHD7</i> disorder inherits a pathogenic variant from a heterozygous parent.

2025年2月9日 · Chromatin remodeler CHD7 targets active enhancer region to regulate cell type-specific gene expression in human neural crest cells. CHD7 regulates otic lineage specification and hair cell differentiation in human inner ear organoids. [Analysis of CHD7 gene variants in 22 patients with idiopathic hypogonadotropic hypogonadism].