蛋白名称
Homeobox protein OTX2
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
来源
Monoclonal, Rabbit,IgG
稀释比例
IHC 1:200-1:1000; WB 1:2000-1:10000; IF 1:200-1:1000; ELISA 1:5000-1:20000; IP 1:50-1:200; Note: For IHC, we suggest antigen retrieval with TE buffer pH 9.0
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
其他名称
OTX2 ; Homeobox protein OTX2 ; Orthodenticle homolog 2
背景
This gene encodes a member of the bicoid subfamily of homeodomain-containing transcription factors. The encoded protein acts as a transcription factor and plays a role in brain, craniofacial, and sensory organ development. The encoded protein also influences the proliferation and differentiation of dopaminergic neuronal progenitor cells during mitosis. Mutations in this gene cause syndromic microphthalmia 5 (MCOPS5) and combined pituitary hormone deficiency 6 (CPHD6). This gene is also suspected of having an oncogenic role in medulloblastoma. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Pseudogenes of this gene are known to exist on chromosomes two and nine. [provided by RefSeq, Jul 2012],
功能
developmental stage:Embryo.,Disease:Defects in OTX2 are the cause of microphthalmia syndromic type 5 (MCOPS5) [MIM:610125]. Microphthalmia is a clinically heterogeneous disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Up to 80% of cases of microphthalia occur in association with syndromes that include non-ocular abnormalities. MCOPS5 patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures.,Function:Probably plays a role in the development of the brain and the sense organs. Can bind to the BCD target sequence (BTS): 5'-TCTAATCCC-3'.,similarity:Belongs to the paired homeobox family. Bicoid subfamily.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Expressed in brain.,
