Anti-CRX1抗体The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells.

产品编号 yb-3798R
英文名称 Anti-CRX1抗体
中文名称 CRX抗体
别    名 Crx; Crx-1; Crx 1; CRD; LCA7; CRX_HUMAN.
Anti-CRX1抗体   
说 明 书 0.1ml  0.2ml  
研究领域 免疫学  信号转导  转录调节因子  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, 
产品应用 WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=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 32kDa
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 CRX
亚    型 IgG
储 存 液 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

PubMed PubMed
产品介绍 background:
The protein encoded by this gene is a photoreceptor-specific transcription factor which plays a role in the differentiation of photoreceptor cells. This homeodomain protein is necessary for the maintenance of normal cone and rod function. Mutations in this gene are associated with photoreceptor degeneration, Leber congenital amaurosis type III and the autosomal dominant cone-rod dystrophy 2. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jul 2008].

Function:
Binds and transactivates the sequence 5'-TAATC[CA]-3' which is found upstream of several photoreceptor-specific genes, including the opsin genes. Acts synergistically with other transcription factors, e.g. NRL and RX, to regulate photoreceptor cell-specific gene transcription. Essential for the maintenance of mammalian photoreceptors. 

Subunit:
Interacts with SCA7. Interacts with RAX2. Interacts (via the homeobox) with NRL (via the leucine-zipper domain). Interacts with PDC.

Subcellular Location:
Nucleus.

Tissue Specificity:
Retina.

DISEASE:
Defects in CRX are the cause of Leber congenital amaurosis type 7 (LCA7) [MIM:613829]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. [DISEASE] Defects in CRX are the cause of cone-rod dystrophy type 2 (CORD2) [MIM:120970]; also known as cone-rod retinal dystrophy 2 (CRD2). CORDs are inherited retinal dystrophies belonging to the group of pigmentary retinopathies. CORDs are characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa. 
Defects in CRX are a cause of retinitis pigmentosa (RP) [MIM:268000]. RP leads to degeneration of retinal photoreceptor cells. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. 

Similarity:
Belongs to the paired homeobox family. Contains 1 homeobox DNA-binding domain.