• Target：
• CHD7

• Gene Name：
• CHD7 KIAA1416

• Protein Name：
• CHD7

• Human Gene Id：
• 55636

• Human Swiss Prot No：
• Q9P2D1

• Mouse Gene Id：
• 320790

• Mouse Swiss Prot No：
• A2AJK6

• Immunogen：
• Synthesized peptide derived from human CHD7 AA range: 1703-1753

• Specificity：
• This antibody detects endogenous levels of CHD7 at Human/Mouse

• Formulation：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• Source：
• Polyclonal, Rabbit,IgG

• Dilution：
• IHC 1：50-200. IF 1:50-200

• Purification：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• Concentration：
• 1 mg/ml

• Storage Stability：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• Molecular Weight(Da)：
• 330kD

• Background：
• 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],

• Function：
• disease:Defects in CHD7 are a cause of CHARGE syndrome [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.,disease: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.,disease: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 gonadotropi

• Subcellular Location：
• [Isoform 1]: Nucleus .; [Isoform 3]: Nucleus, nucleolus .

• Expression：
• Widely expressed in fetal and adult tissues.

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