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Product Name PHOX2A Chinese Name 先天性眼外肌纤维化相关蛋白FEOM2抗体 Alias 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 homeodomain protein; ARIX1 homeodomain protein; CFEOM 2; CFEOM2; FEOM 2; FEOM2; Fibrosis of extraocular muscles congenital 2 autosomal recessive; MGC52227; NCAM 2; NCAM2; Paired like (aristaless) Homeobox 2A; Paired like homeobox 2a; Paired mesoderm homeobox 2a; Paired mesoderm homeobox protein 2A; Paired-like homeobox 2A; PHOX 2A; Phox2; Phox2a; PHX2A_HUMAN; Pmx 2a; Pmx2; Pmx2a. Research Area Neurobiology Signal transduction transcriptional regulatory factor Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species (predicted: Human, Mouse, Rat, Chicken, Cow, Horse, Rabbit, Sheep, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 30kDa Cellular localization The nucleus Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human PHOX2A: 41-140/284 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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.
SWISS:
O14813
Gene ID:
401
Database links:Entrez Gene: 401 Human
Entrez Gene: 11859 Mouse
Omim: 602753 Human
SwissProt: O14813 Human
SwissProt: Q62066 Mouse
Unigene: 705937 Human
Unigene: 5028 Mouse
Unigene: 2858 Rat
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