Rabbit Anti-CHD7/FITC Conjugated antibody

Home > Product > Antibody > Rabbit Anti-CHD7/FITC Conjugated antibody

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-

Cat:

SL13895R-FITC

Species Reactivity：

(predicted: Human,Mouse,Rat,Chicken,Dog,Pig,Cow,Horse,Rabbit,)

Immunogen：

KLH conjugated synthetic peptide derived from human CHD7

Format：

Lyophilized or Liquid

Storage instructions：

Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of ant

Buffer：

0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

Concentration：

1mg/ml

Clonality：

Polyclonal

Isotype：

IgG

Applications：

ICC=1:50-200IF=1:50-200not yet tested in other applications.optimal dilutions/concentrations should be determined by the end user.

Host：

Rabbit

Calculated MW：

336kDa

prev next

Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
Feedback Wall

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. [provided by RefSeq, Jul 2008]

Function:
Probable transcription regulator.

Subcellular Location:
Nucleus.

Tissue Specificity:
Widely expressed in fetal and adult tissues.

Post-translational modifications:
Phosphorylated upon DNA damage, probably by ATM or ATR.

DISEASE:
Defects in CHD7 are a cause of CHARGE syndrome (CHARGES) [MIM:22960]. 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.

Similarity:
Belongs to the SNF2/RAD54 helicase family.
Contains 2 chromo domains.
Contains 1 helicase ATP-binding domain.
Contains 1 helicase SLCterminal domain.

Database links:

Entrez Gene: 55636 Human

Entrez Gene: 64790 Mouse

Omim: 608892 Human

SwissProt: Q9P2D1 Human

SwissProt: A2AJK6 Mouse

Unigene: 20395 Human

Unigene: 138792 Mouse

Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

Product Feedback Wall