Target：PHX2A

Gene Name：PHOX2A ARIX PMX2A

Protein Name：Paired mesoderm homeobox protein 2A (ARIX1 homeodomain protein) (Aristaless homeobox protein homolog) (Paired-like homeobox 2A)

Human Gene Id：401

Human Swiss Prot No：O14813

Mouse Swiss Prot No：Q62066

Rat Swiss Prot No：Q62782

Immunogen：Synthesized peptide derived from human protein . at AA range: 210-290

Specificity：PHX2A Polyclonal Antibody detects endogenous levels of protein.

Formulation：Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000 ELISA 1:5000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Observed Band(KD)：31kD

Background：paired like homeobox 2a(PHOX2A) Homo sapiens 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：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.,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.,similarity:Belongs to the paired homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,

Subcellular Location：Nucleus .

Expression： Brain,