PHOX2A, Blocking Peptide

For Research Use Only. Not for use in diagnostic procedures.

Lyophilized powder

Add 100ul of sterile PBS. Final peptide concentration is 1 mg/ml in PBS. For longer periods of storage, store at -20 degree C. Avoid repeat freeze-thaw cycles.

Small volumes of PHOX2A blocking peptide vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

This is a synthetic peptide designed for use in combination with anti-PHOX2A antibody made

Target Description: PHOX2A 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. PHOX2A has also been shown to regulate transcription of the alpha3 nicotinic acetylcholine receptor gene.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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

Peptide

Immunohistochemistry (IHC), Western Blot (WB)

30kDa

paired like homeobox 2A

paired mesoderm homeobox protein 2A

Paired mesoderm homeobox protein 2A

ARIX; PMX2A  [Similar Products]

PHX2A_HUMAN

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]

PHOX2A: 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. Defects in PHOX2A are the cause of congenital fibrosis of extraocular muscles type 2 (CFEOM2). 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. Belongs to the paired homeobox family.

Protein type: Transcription factor; DNA-binding

Chromosomal Location of Human Ortholog: 11q13.2

Cellular Component: nuclear chromatin

Molecular Function: transcription factor activity

Biological Process: sympathetic nervous system development; regulation of respiratory gaseous exchange; trochlear nerve formation; transcription, DNA-dependent; oculomotor nerve formation; somatic motor neuron differentiation; midbrain development; positive regulation of transcription from RNA polymerase II promoter; locus ceruleus development

Disease: Fibrosis Of Extraocular Muscles, Congenital, 2

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