Dec 24, 2024 · 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 Noncanonical Wnt signaling pathway.

Oct 2, 2006 · CHD7 disorder is an autosomal dominant disorder typically caused by a de novo pathogenic variant. In rare instances, an individual with CHD7 disorder inherits a pathogenic variant from a heterozygous parent.

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]

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.

We found chd-7 regulates tumor growth factor-β (TGF-β) signaling pathways both for dauer diapause and for development of the cuticle, a specialized extracellular matrix. In frog embryos, Chd7 promotes Col2a1 expression, which is necessary and …

Feb 9, 2025 · CHARGE syndrome is a rare genetic disease characterized by numerous congenital abnormalities, mainly caused by de novo alterations of the CHD7 gene. Study using human SH-SY5Y neuroblastoma and 293T cells and transgenic mouse model show that CHD7 directly regulates expression of retinoic acid synthetic enzyme ALDH1A3.

Apr 12, 2022 · Here we report that chd-7, the nematode ortholog of Chd7, is required for dauer morphogenesis, lifespan determination, stress response, and body size determination. Consistent with our discoveries, we found chd-7 to be allelic to scd-3, a previously identified dauer suppressor from the DAF-7/ tumor growth factor-β (TGF-β) pathway.

Mar 20, 2017 · Mutations in the ATP-dependent chromatin remodeller chromodomain, helicase, DNA binding (CHD) 7 are the major cause of CHARGE syndrome, which is characterized by multiple organ defects including...

Sep 29, 2022 · <span><i>CHD7</i> disorder is an autosomal dominant disorder typically caused by a <i>de novo</i> pathogenic variant. In rare instances, an individual with <i>CHD7</i> disorder inherits a pathogenic variant from a heterozygous parent. The risk to the sibs of the proband depends on the genetic status of th</span> …

Chromodomain and Helicase Domain protein. The CHARGE syndrome ortholog CHD-7 regulates TGF-beta pathways in Caenorhabditis elegans. Predicted to enable several functions, including ATP hydrolysis activity; ATP-dependent chromatin remodeler activity; and histone binding activity.