Rabbit Anti-PHOX2A/FITC Conjugated antibody

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Aristaless homeobox (Drosophila) fibrosis of extraocular muscles congenital 2 autosomal recessive; Aristaless homeobox gene homolog (Drosophila); Aristaless homeobox homolog; Aristaless homeobox protein homolog; ARIX 1 homeodomain protein; ARIX; Arix home

Cat:

SL11577R-FITC

Species Reactivity：

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

Immunogen：

KLH conjugated synthetic peptide derived from human PHOX2A (41-140aa)

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：

30kDa

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Unit:

Price: $596.00

Product PDFs

Datasheet: Down Datasheet

Other Information
Citations
Protein Attributes
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background:
The protein encoded by this gene contains a paired-like homeodomain most similar to that of the Drosophila aristaless gene product. The encoded protein plays a central role in development of the autonomic nervous system. It regulates the expression of tyrosine hydroxylase and dopamine beta-hydroxylase, two catecholaminergic biosynthetic enzymes essential for the differentiation and maintenance of the noradrenergic neurotransmitter phenotype. The encoded protein has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene. Mutations in this gene have been associated with autosomal recessive congenital fibrosis of the extraocular muscles. [provided by RefSeq, Jul 2008]

Function:
May be involved in regulating the specificity of expression of the catecholamine biosynthetic genes. Acts as a transcription activator/factor. Could maintain the noradrenergic phenotype.

Subcellular Location:
Nucleus.

DISEASE:
Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2) [MIM:602078]. CFEOM encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. CFEOM is characterized clinically by anchoring of the eyes in downward gaze, ptosis, and backward tilt of the head. CFEOM2 may result from the aberrant development of the oculomotor (nIII), trochlear (nIV) and abducens (nVI) cranial nerve nuclei.

Similarity:
Belongs to the paired homeobox family.
Contains 1 homeobox DNA-binding domain.

Database links:

Entrez Gene: 401 Human

Entrez Gene: 11859 Mouse

Entrez Gene: 116648 Rat

Omim: 602753 Human

SwissProt: O14813 Human

SwissProt: Q62066 Mouse

SwissProt: Q62782 Rat

Unigene: 705937 Human

Unigene: 5028 Mouse

Unigene: 2858 Rat

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

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