Overview

  • Product name
    Mouse Chd7 peptide

Description

  • Nature
    Synthetic

Specifications

Our Abpromise guarantee covers the use of ab31859 in the following tested applications.

The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.

  • Form
    Liquid
  • Additional notes

    - First try to dissolve a small amount of peptide in either water or buffer. The more charged residues on a peptide, the more soluble it is in aqueous solutions.
    - If the peptide doesn’t dissolve try an organic solvent e.g. DMSO, then dilute using water or buffer.
    - Consider that any solvent used must be compatible with your assay. If a peptide does not dissolve and you need to recover it, lyophilise to remove the solvent.
    - Gentle warming and sonication can effectively aid peptide solubilisation. If the solution is cloudy or has gelled the peptide may be in suspension rather than solubilised.
    - Peptides containing cysteine are easily oxidised, so should be prepared in solution just prior to use.

  • Concentration information loading...

Preparation and Storage

  • Stability and Storage

    Shipped at 4°C. Upon delivery aliquot and store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

    Information available upon request.

General Info

  • Alternative names
    • 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
    see all
  • 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

References

ab31859 has not yet been referenced specifically in any publications.

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