PHOX2A,先天性眼外肌纤维化相关蛋白FEOM2抗体

产品编号HZ-11577R
英文名称PHOX2A
中文名称先天性眼外肌纤维化相关蛋白FEOM2抗体
别 名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.
说 明 书0.1ml 0.2ml
研究领域神经生物学 信号转导 转录调节因子 表观遗传学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Rat, Chicken, Cow, Horse, Rabbit, Sheep,
PHOX2A,先天性眼外肌纤维化相关蛋白FEOM2抗体产品应用WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.
分 子 量30kDa
细胞定位细胞核
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human PHOX2A (41-140aa)
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件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 antibody the antibody is stable for at least two weeks at 2-4 °C.
PHOX2A,先天性眼外肌纤维化相关蛋白FEOM2抗体PubMedPubMed
产品介绍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

PHOX2A,先天性眼外肌纤维化相关蛋白FEOM2抗体Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 

产品图片

Tissue/cell: rat adrenal tissue; 4% Paraformaldehyde-fixed and paraffin-embedded;  Antigen retrieval: citrate buffer ( 0.01M, pH 6.0 ), Boiling bathing for 15min; Block endogenous peroxidase by 3% Hydrogen peroxide for 30min; Blocking buffer (normal goat serum,C-0005) at 37℃ for 20 min;  Incubation: Anti-PHOX2A Polyclonal Antibody, Unconjugated(HZ-11577R) 1:200, overnight at 4°C, followed by conjugation to the secondary antibody(SP-0023) and DAB(C-0010) staining