2025年3月30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.

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.

2020年12月8日 · 文章中，研究人员成功失活了小鼠胚胎神经嵴细胞中名为CHD7的基因，随后追踪发育中的心脏神经嵴细胞中CHD7基因的失活如何诱发心脏右心室流出道 ...

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.

2021年9月29日 · Haploinsufficiency of the chromatin remodeling enzyme CHD7 causes CHARGE syndrome, a genetic disorder that affects the development of the cerebellum. However, how CHD7 controls chromatin states...

2022年3月17日 · Chromodomain helicase DNA-binding protein 7 (CHD7), an ATP-dependent eukaryotic chromatin remodeling enzyme, is essential for the development of organs. The...

2025年2月9日 · 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]. [Clinical and genetic analysis of two patients with CHARGE syndrome due to de novo variants of CHD7 gene].

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.

Ubiquitous expression in bone marrow (RPKM 6.4), brain (RPKM 4.0) and 25 other tissues. 该基因编码的蛋白质包含多个解旋酶家族结构域。 在一些患有 CHARGE 综合征的患者中发现了该基因的突变。 已发现该基因的两个转录本变体编码不同的亚型。 [RefSeq 提供，2015 年 10 月] 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.