先天性眼外肌纤维化相关蛋白贵贰翱惭2抗体
规格：1尘驳/1尘濒
英文名： PHOX2A
别名： Aristaless homeobox (Drosophila) fibrosis of extraocular muscles congenital 2 autosomal recessive; Aristaless homeobox gene homolog (Drosophila); Aristaless homeobox homolog; Aristaless homeobox prote
分子量： 30kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human PHOX2A (
交叉反应：Human, Mouse, Rat, Chicken, Cow, Horse, Rabbit, Sheep,
细胞定位：细胞核
先天性眼外肌纤维化相关蛋白贵贰翱惭2抗体产物介绍：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 先天性眼外肌纤维化相关蛋白贵贰翱惭2抗体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先天性眼外肌纤维化相关蛋白贵贰翱惭2抗体 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.
先天性眼外肌纤维化相关蛋白贵贰翱惭2抗体产物应用：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.
研究领域：神经生物学 信号转导 转录调节因子 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid