Overview

  • Product name

  • Description

    Goat polyclonal to Chd7
  • Host species

    Goat
  • Tested applications

    Suitable for: WB, IPmore details
  • Species reactivity

    Reacts with: Human
    Predicted to work with: Mouse, Rat, Chicken
  • Immunogen

    Synthetic peptide:

    KDEIDEFANSPSE

    , corresponding to internal sequence amino acids 1865-1877 of Human Chd7

Properties

Applications

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.

Application Abreviews Notes
WB Use at an assay dependent concentration. Predicted molecular weight: 336 kDa. PubMed: 24705355
IP Use at an assay dependent concentration. PubMed: 24705355

Target

  • Function

    Probable transcription regulator.
  • Tissue specificity

    Widely expressed in fetal and adult tissues.
  • Involvement in 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.
  • Sequence similarities

    Belongs to the SNF2/RAD54 helicase family.
    Contains 2 chromo domains.
    Contains 1 helicase ATP-binding domain.
    Contains 1 helicase C-terminal domain.
  • Post-translational
    modifications

    Phosphorylated upon DNA damage, probably by ATM or ATR.
  • Cellular localization

    Nucleus.
  • Information by UniProt
  • Database links

  • Alternative names

    • ATP-dependent helicase CHD7 antibody
    • ATP-dependent helicase chromodomain helicase DNA binding protein 7 antibody
    • CHD-7 antibody
    • Chd7 antibody
    • CHD7_HUMAN antibody
    • Chromodomain helicase DNA binding protein 7 antibody
    • chromodomain helicase DNA binding protein 7 isoform CRA_e antibody
    • Chromodomain-helicase-DNA-binding protein 7 antibody
    • FLJ20357 antibody
    • FLJ20361 antibody
    • HH5 antibody
    • IS3 antibody
    • KAL5 antibody
    • KIAA1416 antibody
    see all

References

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) »
See all 3 Publications for this product

Customer reviews and Q&As

Application
Immunocytochemistry/ Immunofluorescence
Sample
Mouse Cell (neurosensory progenitor cells and neurons)
Permeabilization
Yes - 01% triton x-100
Specification
neurosensory progenitor cells and neurons
Blocking step
Serum as blocking agent for 2 hour(s) and 0 minute(s) · Concentration: 10% · Temperature: 21°C
Fixative
Formaldehyde

Azadeh Jadali

Verified customer

Submitted May 03 2019

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