protein
ATP-dependent chromatin remodeler CHD7
Gene
CHD7
Organism
Homo sapiens(9606)
Length
2997 aa
Mass
335,927 Da
# CHD7 Summary
CHD7 (ATP-dependent chromatin remodeler CHD7) is a 2997-amino acid ATP-dependent chromatin-remodeling factor that slides nucleosomes along DNA in an ATP-dependent manner (UniProt: Q9P2D1). The protein functions as a probable transcription regulator and may be involved in 45S precursor rRNA production. Its nucleosome-sliding activity is essential for chromatin dynamics during gene regulation.
CHD7 mutations are associated with multiple congenital and developmental conditions. CHARGE syndrome, the most significant, is characterized by a non-random pattern of anomalies affecting the choanae, heart, inner ear, and retina (UniProt: Q9P2D1). The gene is also implicated in idiopathic scoliosis 3 and hypogonadotropic hypogonadism with or without anosmia, conditions involving vertebral and reproductive/olfactory system development.
CHD7 is classified as a syndromic autism-risk gene (SFARI Cat 2) (SFARI: sfari:2, sfari:syndromic), indicating established but variable association with autism spectrum disorder within the context of genetic syndromes. This reflects the broader neurodevelopmental impact of CHD7 disruption during early embryonic development.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Strong candidate — functional studies support ASD association
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
ATP-dependent chromatin-remodeling factor, slides nucleosomes along DNA; nucleosome sliding requires ATP (PubMed:28533432). Probable transcription regulator. May be involved in the in 45S precursor rRNA production
Disease associations
CHARGE syndromeCHARGES
Common cause of congenital anomalies. Is characterized by a non-random pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina.
Idiopathic scoliosis 3IS3
An abnormality of the vertebral column in which patients develop lateral curvature of the spine of at least 10 degrees.
Hypogonadotropic hypogonadism 5 with or without anosmiaHH5
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Sources
Last updated 5/6/2026, 5:24:13 AM