Price range: $268.00 through $328.00
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],
| Size | 50μL/100μL |
| Target | CHD7 |
| Reactivity | Human, Mouse |
| Applications | IHC, IF |
| MW(Calculated) | 330kD |
| MW(Observed) | |
| Host Species | Rabbit |
| Isotype | IgG |
| Conjugate/Modification | Unmodified |
| Recommended Dilution Ratio | IHC 1:50-200; IF 1:50-200 / Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0 (Cat#WT1004) |
| Formulation | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
| Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen. |
| Storage | -15°C to -25°C/1 year(Do not lower than -25°C) |
| Concentration | 1 mg/ml |
| Clonality | Polyclonal |
| Clone Number | |
| Immunogen | Synthesized peptide derived from human CHD7 AA range: 1703-1753 |
| Specificity | This antibody detects endogenous levels of CHD7 at Human/Mouse |
| Gene Name | CHD7 KIAA1416 |
| Protein Name | CHD7 |
| Other Name | |
| Species | Human |
| Gene ID | 55636 |
| Uniprot | Q9P2D1, |
| Species.1 | Mouse |
| Gene ID.1 | 320790 |
| Uniprot.1 | A2AJK6 |
| Species.2 | |
| Gene ID.2 | |
| Uniprot.2 | |
| Cellular Localization | [Isoform 1]: Nucleus .; [Isoform 3]: Nucleus, nucleolus . |
| Tissue Expression | Widely expressed in fetal and adult tissues. |
| Signaling_pathway | |
| Research Areas | |
| 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 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.,Disease: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.,Function:Probable transcription regulator.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,similarity:Belongs to the SNF2/RAD54 helicase family.,similarity:Contains 1 helicase ATP-binding domain.,similarity:Contains 1 helicase C-terminal domain.,similarity:Contains 2 chromo domains.,tissue specificity:Widely expressed in fetal and adult tissues., |
