Product Name	CHD7
Chinese Name	ATP依赖的解旋酶CHD7抗体
Alias	ATP-dependent helicase CHD7; ATP-dependent helicase chromodomain helicase DNA binding protein 7; CHD-7; Chd7; CHD7_HUMAN; Chromodomain helicase DNA binding protein 7; chromodomain helicase DNA binding protein 7 isoform CRA_e; Chromodomain-helicase-DNA-binding protein 7; FLJ20357; FLJ20361; HH5; IS3; KAL5; KIAA1416.
Research Area	Cell biology  Signal transduction  Epigenetics
Immunogen Species	Rabbit
Clonality	Polyclonal
React Species	(predicted: Human, Mouse, Rat, Chicken, Dog, Pig, Cow, Horse, Rabbit, )
Applications	ELISA=1:5000-10000  not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
Theoretical molecular weight	336kDa
Cellular localization	The nucleus
Form	Liquid
Concentration	1mg/ml
immunogen	KLH conjugated synthetic peptide derived from human CHD7: 701-800/2997
Lsotype	IgG
Purification	affinity purified by Protein A
Buffer Solution	0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
Storage	Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
Attention	This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
PubMed	PubMed
Product Detail	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:214800]. 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 C-terminal domain. SWISS: Q9P2D1 Gene ID: 55636 Database links: Entrez Gene: 55636 Human Entrez Gene: 320790 Mouse Omim: 608892 Human SwissProt: Q9P2D1 Human SwissProt: A2AJK6 Mouse Unigene: 20395 Human Unigene: 138792 Mouse

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