Storage instructionsShipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.
Storage bufferpH: 7.30
Preservative: 0.02% Sodium azide
Constituents: 0.5% Tris buffered saline, 0.5% BSA
Without Mg2+ and Ca2+
Concentration information loading...
PurityImmunogen affinity purified
Purification notesPurified from goat serum by ammonium sulphate precipitation followed by antigen affinity chromatography using the immunizing peptide.
Our Abpromise guarantee covers the use of ab65097 in the following tested applications.
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
|WB||Use at an assay dependent concentration. Predicted molecular weight: 336 kDa. PubMed: 24705355|
|IP||Use at an assay dependent concentration. PubMed: 24705355|
FunctionProbable transcription regulator.
Tissue specificityWidely expressed in fetal and adult tissues.
Involvement in diseaseDefects 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.
Sequence similaritiesBelongs to the SNF2/RAD54 helicase family.
Contains 2 chromo domains.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase C-terminal domain.
modificationsPhosphorylated upon DNA damage, probably by ATM or ATR.
- Information by UniProt
- ATP-dependent helicase CHD7 antibody
- ATP-dependent helicase chromodomain helicase DNA binding protein 7 antibody
- CHD-7 antibody
This product has been referenced in:
- Schulz Y et al. CHARGE and Kabuki syndromes: a phenotypic and molecular link. Hum Mol Genet N/A:N/A (2014). WB, IP ; Human . Read more (PubMed: 24705355) »
- Batsukh T et al. Identification and characterization of FAM124B as a novel component of a CHD7 and CHD8 containing complex. PLoS One 7:e52640 (2012). IP ; Human . Read more (PubMed: 23285124) »