致盲基因LCA5蛋白抗体
规格：1mg/1ml
英文名： LCA5/Lebercilin
别名： C6orf152; LCA5; Leber congenital amaurosis 5; Leber congenital amaurosis 5 protein; ORF64; RGD1308555.
分子量： 77kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human LCA5
交叉反应：Human, Mouse, Rat, Dog, Pig, Horse, Rabbit,
细胞定位：细胞浆
致盲基因LCA5蛋白抗体产品介绍：background: Leber congenital amaurosis (LCA) is one of the most common causes of hereditary blindness or severe visual impairment in infants. Mutations in several genes with diverse functions mapping to two loci have been implicated in LCA causation. These proteins are involved in processes such as photoreceptor development and maintenance, phototransduction, vitamin A metabolism and protein trafficking. LCA5, also known as Lebercilin, is a ciliary protein that is widely expressed during development and localizes to the connecting cilia of photoreceptors and to the microtubules, centrioles and primary cilia of cultured mammalian cells. The Leber congenital amaurosis 5-like protein (LCA5L) is a 670 amino acid protein that belongs to the LCA5 family. Function: Might be involved in minus end-directed microtubule transport. Subunit: Interacts with NINL. Interacts with OFD1. Subcellular Location: Cytoplasm, cytoskeleton. Cell projection, cilium axoneme致盲基因LCA5蛋白抗体. Cell projection, cilium basal body. Note: In non ciliated cells, localizes to the centrosome and its associated microtubule array. DISEASE: Defects in LCA5 are the cause of Leber congenital amaurosis type 5 (LCA5) [MIM:604537]. 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.致盲基因LCA5蛋白抗体 Similarity: Belongs to the LCA5 family. Database links: Entrez Gene: 167691 Human Entrez Gene: 75782 Mouse Entrez Gene: 300866 Rat Omim: 611408 Human SwissProt: Q86VQ0 Human SwissProt: Q80ST9 Mouse SwissProt: Q5U2Y9 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
致盲基因LCA5蛋白抗体产品应用：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.
研究领域：细胞生物 **学 神经生物学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid