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. [provided by RefSeq, Jul 2008]
Function:
Probable transcription regulator.
Subcellular Location:
Nucleus.
Tissue Specificity:
Widely expressed in fetal and adult tissues.
Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.
DISEASE:
Defects in CHD7 are a cause of CHARGE syndrome (CHARGES) [MIM:22960]. This syndrome, which is a 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.
Genetic variations in CHD7 are associated with susceptibility to idiopathic scoliosis type 3 (IS3) [MIM:608765]. Idiopathic scoliosis (IS) is the most common spinal deformity in children.
Defects in CHD7 are the cause of Kallmann syndrome type 5 (KAL5) [MIM:612370]. Kallmann syndrome is a disorder that associates hypogonadotropic hypogonadism and anosmia. 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 some patients other developmental anomalies can be present, which include renal agenesis, cleft lip and/or palate, selective tooth agenesis, and bimanual synkinesis. In some cases anosmia may be absent or inconspicuous.
Defects in CHD7 are a cause of idiopathic hypogonadotropic hypogonadism (IHH) [MIM:146110]. IHH is defined as a deficiency of the pituitary secretion of follicle-stimulating hormone and luteinizing hormone, which results in the impairment of pubertal maturation and of reproductive function.
Similarity:
Belongs to the SNF2/RAD54 helicase family.
Contains 2 chromo domains.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase SLCterminal domain.
SWISS:
Q9P2D1
Gene ID:
55636
Database links:
Entrez Gene: 55636 Human
Entrez Gene: 64790 Mouse
Omim: 608892 Human
SwissProt: Q9P2D1 Human
SwissProt: A2AJK6 Mouse
Unigene: 20395 Human
Unigene: 138792 Mouse
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