CHD7

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. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]

Chromodomain Helicase DNA Binding Protein 7

Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production.

Adult heart development Source: Ensembl
Adult walking behavior Source: Ensembl
Aorta morphogenesis Source: Ensembl
Atrioventricular canal development Source: Ensembl
Blood circulation Source: Ensembl
Blood vessel remodeling Source: Ensembl
Cardiac septum morphogenesis Source: Ensembl
Central nervous system development Source: BHF-UCL
Chromatin remodeling Source: Ensembl
Cognition Source: BHF-UCL
Cranial nerve development Source: BHF-UCL
Embryonic hindlimb morphogenesis Source: Ensembl
Epithelium development Source: Ensembl
Face development Source: BHF-UCL
Female genitalia development Source: Ensembl
Genitalia development Source: BHF-UCL
Heart morphogenesis Source: BHF-UCL
Inner ear morphogenesis Source: BHF-UCL
Innervation Source: Ensembl
In utero embryonic development Source: BHF-UCL
Limb development Source: BHF-UCL
Nose development Source: BHF-UCL
Olfactory behavior Source: Ensembl
Olfactory bulb development Source: Ensembl
Olfactory nerve development Source: Ensembl
Positive regulation of multicellular organism growth Source: Ensembl
Positive regulation of transcription by RNA polymerase II Source: Ensembl
Regulation of growth hormone secretion Source: BHF-UCL
Regulation of neurogenesis Source: Ensembl
Regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum Source: Ensembl
Regulation of transcription, DNA-templated Source: BHF-UCL
Response to bacterium Source: Ensembl
Retina development in camera-type eye Source: BHF-UCL
Right ventricular compact myocardium morphogenesis Source: Ensembl
rRNA processing Source: UniProtKB-KW
Secondary palate development Source: BHF-UCL
Semicircular canal morphogenesis Source: Ensembl
Sensory perception of sound Source: Ensembl
Skeletal system development Source: BHF-UCL
T cell differentiation Source: BHF-UCL
Ventricular trabecula myocardium morphogenesis Source: Ensembl

Isoform 1: Nucleus
Isoform 3: Nucleolus

CHARGE syndrome (CHARGES): 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 3 (IS3): 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 anosmia (HH5): 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).